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dbVar

Database of genomic structural variation

esv3646552

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
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 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: 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
esv3646552	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	20,430,615	20,473,369
esv3646552	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
essv16279229	deletion	SAMN00630198	Sequencing	Read depth and paired-end mapping	Heterozygous	3,096
essv16279230	deletion	SAMN00262981	Sequencing	Read depth and paired-end mapping	Heterozygous	2,961
essv16279231	deletion	SAMN00779982	Sequencing	Read depth and paired-end mapping	Heterozygous	3,199
essv16279232	deletion	SAMN01090882	Sequencing	Read depth and paired-end mapping	Heterozygous	3,051
essv16279233	deletion	SAMN01090775	Sequencing	Read depth and paired-end mapping	Heterozygous	3,054
essv16279234	deletion	SAMN00001583	Sequencing	Read depth and paired-end mapping	Heterozygous	3,337
essv16279235	deletion	SAMN00001674	Sequencing	Read depth and paired-end mapping	Heterozygous	3,102
essv16279236	deletion	SAMN00007810	Sequencing	Read depth and paired-end mapping	Heterozygous	3,058

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv16279229	Remapped	Perfect	NC_000021.9:g.2043 0615_20473369del	GRCh38.p12	First Pass	NC_000021.9	Chr21	20,430,615	20,473,369
essv16279230	Remapped	Perfect	NC_000021.9:g.2043 0615_20473369del	GRCh38.p12	First Pass	NC_000021.9	Chr21	20,430,615	20,473,369
essv16279231	Remapped	Perfect	NC_000021.9:g.2043 0615_20473369del	GRCh38.p12	First Pass	NC_000021.9	Chr21	20,430,615	20,473,369
essv16279232	Remapped	Perfect	NC_000021.9:g.2043 0615_20473369del	GRCh38.p12	First Pass	NC_000021.9	Chr21	20,430,615	20,473,369
essv16279233	Remapped	Perfect	NC_000021.9:g.2043 0615_20473369del	GRCh38.p12	First Pass	NC_000021.9	Chr21	20,430,615	20,473,369
essv16279234	Remapped	Perfect	NC_000021.9:g.2043 0615_20473369del	GRCh38.p12	First Pass	NC_000021.9	Chr21	20,430,615	20,473,369
essv16279235	Remapped	Perfect	NC_000021.9:g.2043 0615_20473369del	GRCh38.p12	First Pass	NC_000021.9	Chr21	20,430,615	20,473,369
essv16279236	Remapped	Perfect	NC_000021.9:g.2043 0615_20473369del	GRCh38.p12	First Pass	NC_000021.9	Chr21	20,430,615	20,473,369
essv16279229	Submitted genomic		NC_000021.8:g.2180 2927_21845681del	GRCh37 (hg19)		NC_000021.8	Chr21	21,802,927	21,845,681
essv16279230	Submitted genomic		NC_000021.8:g.2180 2927_21845681del	GRCh37 (hg19)		NC_000021.8	Chr21	21,802,927	21,845,681
essv16279231	Submitted genomic		NC_000021.8:g.2180 2927_21845681del	GRCh37 (hg19)		NC_000021.8	Chr21	21,802,927	21,845,681
essv16279232	Submitted genomic		NC_000021.8:g.2180 2927_21845681del	GRCh37 (hg19)		NC_000021.8	Chr21	21,802,927	21,845,681
essv16279233	Submitted genomic		NC_000021.8:g.2180 2927_21845681del	GRCh37 (hg19)		NC_000021.8	Chr21	21,802,927	21,845,681
essv16279234	Submitted genomic		NC_000021.8:g.2180 2927_21845681del	GRCh37 (hg19)		NC_000021.8	Chr21	21,802,927	21,845,681
essv16279235	Submitted genomic		NC_000021.8:g.2180 2927_21845681del	GRCh37 (hg19)		NC_000021.8	Chr21	21,802,927	21,845,681
essv16279236	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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