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dbVar

Database of genomic structural variation

esv2671817

Organism: Homo sapiens

Study:estd199 (1000 Genomes Consortium Phase 1)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:7
Validation:Yes
Clinical Assertions: No
Region Size:13,098

Description:High quality site
Publication(s):1000 Genomes Project Consortium et al. 2012

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: 474 SVs from 73 studies. See in: genome view

Remapped(Score: Perfect):189,416,315-189,429,412

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
esv2671817	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	189,416,315	189,416,686	189,429,042	189,429,412
esv2671817	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	189,385,445	189,385,816	189,398,172	189,398,542

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5509972	deletion	SAMN00000431	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,496
essv5529419	deletion	SAMN00000423	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,491
essv5554572	deletion	SAMN00000458	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,421
essv5820293	deletion	SAMN00001600	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,284
essv6093726	deletion	SAMN00001604	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,444
essv6214620	deletion	SAMN00000434	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,579
essv6517857	deletion	SAMN00001596	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,369

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv5509972	Remapped	Perfect	NC_000001.11:g.(18 9416315_189416686) _(189429042_189429 412)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,416,315	189,416,686	189,429,042	189,429,412
essv5529419	Remapped	Perfect	NC_000001.11:g.(18 9416315_189416686) _(189429042_189429 412)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,416,315	189,416,686	189,429,042	189,429,412
essv5554572	Remapped	Perfect	NC_000001.11:g.(18 9416315_189416686) _(189429042_189429 412)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,416,315	189,416,686	189,429,042	189,429,412
essv5820293	Remapped	Perfect	NC_000001.11:g.(18 9416315_189416686) _(189429042_189429 412)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,416,315	189,416,686	189,429,042	189,429,412
essv6093726	Remapped	Perfect	NC_000001.11:g.(18 9416315_189416686) _(189429042_189429 412)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,416,315	189,416,686	189,429,042	189,429,412
essv6214620	Remapped	Perfect	NC_000001.11:g.(18 9416315_189416686) _(189429042_189429 412)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,416,315	189,416,686	189,429,042	189,429,412
essv6517857	Remapped	Perfect	NC_000001.11:g.(18 9416315_189416686) _(189429042_189429 412)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,416,315	189,416,686	189,429,042	189,429,412
essv5509972	Submitted genomic		NC_000001.10:g.(18 9385445_189385816) _(189398172_189398 542)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,385,445	189,385,816	189,398,172	189,398,542
essv5529419	Submitted genomic		NC_000001.10:g.(18 9385445_189385816) _(189398172_189398 542)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,385,445	189,385,816	189,398,172	189,398,542
essv5554572	Submitted genomic		NC_000001.10:g.(18 9385445_189385816) _(189398172_189398 542)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,385,445	189,385,816	189,398,172	189,398,542
essv5820293	Submitted genomic		NC_000001.10:g.(18 9385445_189385816) _(189398172_189398 542)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,385,445	189,385,816	189,398,172	189,398,542
essv6093726	Submitted genomic		NC_000001.10:g.(18 9385445_189385816) _(189398172_189398 542)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,385,445	189,385,816	189,398,172	189,398,542
essv6214620	Submitted genomic		NC_000001.10:g.(18 9385445_189385816) _(189398172_189398 542)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,385,445	189,385,816	189,398,172	189,398,542
essv6517857	Submitted genomic		NC_000001.10:g.(18 9385445_189385816) _(189398172_189398 542)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,385,445	189,385,816	189,398,172	189,398,542

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5529419	7	SAMN00000423	SNP array	Probe signal intensity	Pass
essv5509972	7	SAMN00000431	SNP array	Probe signal intensity	Pass
essv6214620	7	SAMN00000434	SNP array	Probe signal intensity	Pass
essv5554572	7	SAMN00000458	SNP array	Probe signal intensity	Pass
essv6517857	7	SAMN00001596	SNP array	Probe signal intensity	Pass
essv5820293	7	SAMN00001600	SNP array	Probe signal intensity	Pass
essv6093726	7	SAMN00001604	SNP array	Probe signal intensity	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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