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dbVar

Database of genomic structural variation

esv3886279

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:8
Validation:Not tested
Clinical Assertions: No
Region Size:42,755

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: 615 SVs from 70 studies. See in: genome view

Remapped(Score: Perfect):20,430,615-20,473,369

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3886279	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	20,430,615	20,473,369
esv3886279	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	21,802,927	21,845,681

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv24937638	deletion	HG01896	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,801
essv24937639	deletion	HG02256	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,624
essv24937640	deletion	HG02679	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,914
essv24937641	deletion	HG03163	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,980
essv24937642	deletion	HG03212	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,788
essv24937643	deletion	NA18505	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,059
essv24937644	deletion	NA19138	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,057
essv24937645	deletion	NA19901	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,801

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv24937638	Remapped	Perfect	NC_000021.9:g.2043 0615_20473369del	GRCh38.p12	First Pass	NC_000021.9	Chr21	20,430,615	20,473,369
essv24937639	Remapped	Perfect	NC_000021.9:g.2043 0615_20473369del	GRCh38.p12	First Pass	NC_000021.9	Chr21	20,430,615	20,473,369
essv24937640	Remapped	Perfect	NC_000021.9:g.2043 0615_20473369del	GRCh38.p12	First Pass	NC_000021.9	Chr21	20,430,615	20,473,369
essv24937641	Remapped	Perfect	NC_000021.9:g.2043 0615_20473369del	GRCh38.p12	First Pass	NC_000021.9	Chr21	20,430,615	20,473,369
essv24937642	Remapped	Perfect	NC_000021.9:g.2043 0615_20473369del	GRCh38.p12	First Pass	NC_000021.9	Chr21	20,430,615	20,473,369
essv24937643	Remapped	Perfect	NC_000021.9:g.2043 0615_20473369del	GRCh38.p12	First Pass	NC_000021.9	Chr21	20,430,615	20,473,369
essv24937644	Remapped	Perfect	NC_000021.9:g.2043 0615_20473369del	GRCh38.p12	First Pass	NC_000021.9	Chr21	20,430,615	20,473,369
essv24937645	Remapped	Perfect	NC_000021.9:g.2043 0615_20473369del	GRCh38.p12	First Pass	NC_000021.9	Chr21	20,430,615	20,473,369
essv24937638	Submitted genomic		NC_000021.8:g.2180 2927_21845681del	GRCh37 (hg19)		NC_000021.8	Chr21	21,802,927	21,845,681
essv24937639	Submitted genomic		NC_000021.8:g.2180 2927_21845681del	GRCh37 (hg19)		NC_000021.8	Chr21	21,802,927	21,845,681
essv24937640	Submitted genomic		NC_000021.8:g.2180 2927_21845681del	GRCh37 (hg19)		NC_000021.8	Chr21	21,802,927	21,845,681
essv24937641	Submitted genomic		NC_000021.8:g.2180 2927_21845681del	GRCh37 (hg19)		NC_000021.8	Chr21	21,802,927	21,845,681
essv24937642	Submitted genomic		NC_000021.8:g.2180 2927_21845681del	GRCh37 (hg19)		NC_000021.8	Chr21	21,802,927	21,845,681
essv24937643	Submitted genomic		NC_000021.8:g.2180 2927_21845681del	GRCh37 (hg19)		NC_000021.8	Chr21	21,802,927	21,845,681
essv24937644	Submitted genomic		NC_000021.8:g.2180 2927_21845681del	GRCh37 (hg19)		NC_000021.8	Chr21	21,802,927	21,845,681
essv24937645	Submitted genomic		NC_000021.8:g.2180 2927_21845681del	GRCh37 (hg19)		NC_000021.8	Chr21	21,802,927	21,845,681

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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