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dbVar

Database of genomic structural variation

esv3326612

Organism: Homo sapiens

Study:estd59 (1000 Genomes Consortium Pilot Project)
Variant Type:insertion
Method Type:Sequencing
Submitted on:NCBI36 (hg18)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:17

Publication(s):1000 Genomes Project Consortium et al. 2010

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: 109 SVs from 34 studies. See in: genome view

Remapped(Score: Perfect):28,546,554-28,546,602

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3326612	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	28,546,570 (-16, +14)	28,546,586 (-16, +16)
esv3326612	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_2	Second Pass	NT_113891.3	Chr6\|NT_11 3891.3	36,451 (-16, +14)	36,467 (-16, +16)
esv3326612	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	28,514,347 (-16, +14)	28,514,363 (-16, +16)
esv3326612	Remapped	Perfect	GRCh37.p13	ALT_REF_LOCI_2	Second Pass	NT_113891.2	Chr6\|NT_11 3891.2	36,551 (-16, +14)	36,567 (-16, +16)
esv3326612	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000006.10	Chr6	28,622,326 (-16, +14)	28,622,342 (-16, +16)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv8676361	insertion	SAMN00001696	Sequencing	Paired-end mapping	44,056
essv8676362	insertion	SAMN00001694	Sequencing	Paired-end mapping	29,487

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv8676361	Remapped	Perfect	NT_113891.3:g.(364 35_36465)_(36451_3 6483)ins171	GRCh38.p12	Second Pass	NT_113891.3	Chr6\|NT_11 3891.3	36,451 (-16, +14)	36,467 (-16, +16)
essv8676362	Remapped	Perfect	NT_113891.3:g.(364 35_36465)_(36451_3 6483)ins171	GRCh38.p12	Second Pass	NT_113891.3	Chr6\|NT_11 3891.3	36,451 (-16, +14)	36,467 (-16, +16)
essv8676361	Remapped	Perfect	NC_000006.12:g.(28 546554_28546584)_( 28546570_28546602) ins171	GRCh38.p12	First Pass	NC_000006.12	Chr6	28,546,570 (-16, +14)	28,546,586 (-16, +16)
essv8676362	Remapped	Perfect	NC_000006.12:g.(28 546554_28546584)_( 28546570_28546602) ins171	GRCh38.p12	First Pass	NC_000006.12	Chr6	28,546,570 (-16, +14)	28,546,586 (-16, +16)
essv8676361	Remapped	Perfect	NT_113891.2:g.(365 35_36565)_(36551_3 6583)ins171	GRCh37.p13	Second Pass	NT_113891.2	Chr6\|NT_11 3891.2	36,551 (-16, +14)	36,567 (-16, +16)
essv8676362	Remapped	Perfect	NT_113891.2:g.(365 35_36565)_(36551_3 6583)ins171	GRCh37.p13	Second Pass	NT_113891.2	Chr6\|NT_11 3891.2	36,551 (-16, +14)	36,567 (-16, +16)
essv8676361	Remapped	Perfect	NC_000006.11:g.(28 514331_28514361)_( 28514347_28514379) ins171	GRCh37.p13	First Pass	NC_000006.11	Chr6	28,514,347 (-16, +14)	28,514,363 (-16, +16)
essv8676362	Remapped	Perfect	NC_000006.11:g.(28 514331_28514361)_( 28514347_28514379) ins171	GRCh37.p13	First Pass	NC_000006.11	Chr6	28,514,347 (-16, +14)	28,514,363 (-16, +16)
essv8676361	Submitted genomic		NC_000006.10:g.(28 622310_28622340)_( 28622326_28622358) ins171	NCBI36 (hg18)		NC_000006.10	Chr6	28,622,326 (-16, +14)	28,622,342 (-16, +16)
essv8676362	Submitted genomic		NC_000006.10:g.(28 622310_28622340)_( 28622326_28622358) ins171	NCBI36 (hg18)		NC_000006.10	Chr6	28,622,326 (-16, +14)	28,622,342 (-16, +16)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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