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dbVar

Database of genomic structural variation

esv3876563

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:35,041

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

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: 622 SVs from 65 studies. See in: genome view

Remapped(Score: Perfect):6,778,419-6,813,985

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3876563	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	6,778,681 (-262, +0)	6,813,721 (-0, +264)
esv3876563	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	6,828,682 (-262, +0)	6,863,722 (-0, +264)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv23889198	deletion	HG00290	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,722
essv23889199	deletion	HG00311	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,551
essv23889200	deletion	HG01880	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,797
essv23889201	deletion	HG03237	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,713
essv23889202	deletion	NA20522	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,451
essv23889203	deletion	NA20756	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,376

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv23889198	Remapped	Perfect	NC_000016.10:g.(67 78419_6778681)_(68 13721_6813985)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	6,778,681 (-262, +0)	6,813,721 (-0, +264)
essv23889199	Remapped	Perfect	NC_000016.10:g.(67 78419_6778681)_(68 13721_6813985)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	6,778,681 (-262, +0)	6,813,721 (-0, +264)
essv23889200	Remapped	Perfect	NC_000016.10:g.(67 78419_6778681)_(68 13721_6813985)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	6,778,681 (-262, +0)	6,813,721 (-0, +264)
essv23889201	Remapped	Perfect	NC_000016.10:g.(67 78419_6778681)_(68 13721_6813985)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	6,778,681 (-262, +0)	6,813,721 (-0, +264)
essv23889202	Remapped	Perfect	NC_000016.10:g.(67 78419_6778681)_(68 13721_6813985)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	6,778,681 (-262, +0)	6,813,721 (-0, +264)
essv23889203	Remapped	Perfect	NC_000016.10:g.(67 78419_6778681)_(68 13721_6813985)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	6,778,681 (-262, +0)	6,813,721 (-0, +264)
essv23889198	Submitted genomic		NC_000016.9:g.(682 8420_6828682)_(686 3722_6863986)del	GRCh37 (hg19)		NC_000016.9	Chr16	6,828,682 (-262, +0)	6,863,722 (-0, +264)
essv23889199	Submitted genomic		NC_000016.9:g.(682 8420_6828682)_(686 3722_6863986)del	GRCh37 (hg19)		NC_000016.9	Chr16	6,828,682 (-262, +0)	6,863,722 (-0, +264)
essv23889200	Submitted genomic		NC_000016.9:g.(682 8420_6828682)_(686 3722_6863986)del	GRCh37 (hg19)		NC_000016.9	Chr16	6,828,682 (-262, +0)	6,863,722 (-0, +264)
essv23889201	Submitted genomic		NC_000016.9:g.(682 8420_6828682)_(686 3722_6863986)del	GRCh37 (hg19)		NC_000016.9	Chr16	6,828,682 (-262, +0)	6,863,722 (-0, +264)
essv23889202	Submitted genomic		NC_000016.9:g.(682 8420_6828682)_(686 3722_6863986)del	GRCh37 (hg19)		NC_000016.9	Chr16	6,828,682 (-262, +0)	6,863,722 (-0, +264)
essv23889203	Submitted genomic		NC_000016.9:g.(682 8420_6828682)_(686 3722_6863986)del	GRCh37 (hg19)		NC_000016.9	Chr16	6,828,682 (-262, +0)	6,863,722 (-0, +264)

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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