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dbVar

Database of genomic structural variation

esv3588359

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:9
Validation:Not tested
Clinical Assertions: No
Region Size:8,624

Publication(s):1000 Genomes Project Consortium et al. 2015

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 192 SVs from 33 studies. See in: genome view

Remapped(Score: Perfect):192,705,664-192,714,760

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3588359	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	192,705,875 (-211, +0)	192,714,498 (-0, +262)
esv3588359	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	192,675,005 (-211, +0)	192,683,628 (-0, +262)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv10239584	deletion	SAMN00630217	Sequencing	Read depth and paired-end mapping	Heterozygous	3,296
essv10239585	deletion	SAMN01036760	Sequencing	Read depth and paired-end mapping	Heterozygous	3,162
essv10239586	deletion	SAMN01761220	Sequencing	Read depth and paired-end mapping	Heterozygous	3,325
essv10239587	deletion	SAMN00001665	Sequencing	Read depth and paired-end mapping	Heterozygous	3,380
essv10239588	deletion	SAMN00001117	Sequencing	Read depth and paired-end mapping	Heterozygous	4,071
essv10239589	deletion	SAMN00001132	Sequencing	Read depth and paired-end mapping	Heterozygous	2,992
essv10239590	deletion	SAMN00001166	Sequencing	Read depth and paired-end mapping	Heterozygous	2,448
essv10239591	deletion	SAMN00001184	Sequencing	Read depth and paired-end mapping	Heterozygous	2,973
essv10239592	deletion	SAMN00001187	Sequencing	Read depth and paired-end mapping	Heterozygous	2,941

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv10239584	Remapped	Perfect	NC_000001.11:g.(19 2705664_192705875) _(192714498_192714 760)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	192,705,875 (-211, +0)	192,714,498 (-0, +262)
essv10239585	Remapped	Perfect	NC_000001.11:g.(19 2705664_192705875) _(192714498_192714 760)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	192,705,875 (-211, +0)	192,714,498 (-0, +262)
essv10239586	Remapped	Perfect	NC_000001.11:g.(19 2705664_192705875) _(192714498_192714 760)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	192,705,875 (-211, +0)	192,714,498 (-0, +262)
essv10239587	Remapped	Perfect	NC_000001.11:g.(19 2705664_192705875) _(192714498_192714 760)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	192,705,875 (-211, +0)	192,714,498 (-0, +262)
essv10239588	Remapped	Perfect	NC_000001.11:g.(19 2705664_192705875) _(192714498_192714 760)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	192,705,875 (-211, +0)	192,714,498 (-0, +262)
essv10239589	Remapped	Perfect	NC_000001.11:g.(19 2705664_192705875) _(192714498_192714 760)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	192,705,875 (-211, +0)	192,714,498 (-0, +262)
essv10239590	Remapped	Perfect	NC_000001.11:g.(19 2705664_192705875) _(192714498_192714 760)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	192,705,875 (-211, +0)	192,714,498 (-0, +262)
essv10239591	Remapped	Perfect	NC_000001.11:g.(19 2705664_192705875) _(192714498_192714 760)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	192,705,875 (-211, +0)	192,714,498 (-0, +262)
essv10239592	Remapped	Perfect	NC_000001.11:g.(19 2705664_192705875) _(192714498_192714 760)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	192,705,875 (-211, +0)	192,714,498 (-0, +262)
essv10239584	Submitted genomic		NC_000001.10:g.(19 2674794_192675005) _(192683628_192683 890)del	GRCh37 (hg19)		NC_000001.10	Chr1	192,675,005 (-211, +0)	192,683,628 (-0, +262)
essv10239585	Submitted genomic		NC_000001.10:g.(19 2674794_192675005) _(192683628_192683 890)del	GRCh37 (hg19)		NC_000001.10	Chr1	192,675,005 (-211, +0)	192,683,628 (-0, +262)
essv10239586	Submitted genomic		NC_000001.10:g.(19 2674794_192675005) _(192683628_192683 890)del	GRCh37 (hg19)		NC_000001.10	Chr1	192,675,005 (-211, +0)	192,683,628 (-0, +262)
essv10239587	Submitted genomic		NC_000001.10:g.(19 2674794_192675005) _(192683628_192683 890)del	GRCh37 (hg19)		NC_000001.10	Chr1	192,675,005 (-211, +0)	192,683,628 (-0, +262)
essv10239588	Submitted genomic		NC_000001.10:g.(19 2674794_192675005) _(192683628_192683 890)del	GRCh37 (hg19)		NC_000001.10	Chr1	192,675,005 (-211, +0)	192,683,628 (-0, +262)
essv10239589	Submitted genomic		NC_000001.10:g.(19 2674794_192675005) _(192683628_192683 890)del	GRCh37 (hg19)		NC_000001.10	Chr1	192,675,005 (-211, +0)	192,683,628 (-0, +262)
essv10239590	Submitted genomic		NC_000001.10:g.(19 2674794_192675005) _(192683628_192683 890)del	GRCh37 (hg19)		NC_000001.10	Chr1	192,675,005 (-211, +0)	192,683,628 (-0, +262)
essv10239591	Submitted genomic		NC_000001.10:g.(19 2674794_192675005) _(192683628_192683 890)del	GRCh37 (hg19)		NC_000001.10	Chr1	192,675,005 (-211, +0)	192,683,628 (-0, +262)
essv10239592	Submitted genomic		NC_000001.10:g.(19 2674794_192675005) _(192683628_192683 890)del	GRCh37 (hg19)		NC_000001.10	Chr1	192,675,005 (-211, +0)	192,683,628 (-0, +262)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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