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dbVar

Database of genomic structural variation

esv3878207

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:4
Validation:Not tested
Clinical Assertions: No
Region Size:27,043

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: 205 SVs from 31 studies. See in: genome view

Remapped(Score: Perfect):80,494,227-80,521,269

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3878207	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	80,494,227	80,521,269
esv3878207	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	80,528,124	80,555,166

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv24073348	deletion	HG02025	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,403
essv24073349	deletion	HG02102	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,446
essv24073350	deletion	NA19457	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,461
essv24073351	deletion	NA19467	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,649

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv24073348	Remapped	Perfect	NC_000016.10:g.804 94227_80521269del	GRCh38.p12	First Pass	NC_000016.10	Chr16	80,494,227	80,521,269
essv24073349	Remapped	Perfect	NC_000016.10:g.804 94227_80521269del	GRCh38.p12	First Pass	NC_000016.10	Chr16	80,494,227	80,521,269
essv24073350	Remapped	Perfect	NC_000016.10:g.804 94227_80521269del	GRCh38.p12	First Pass	NC_000016.10	Chr16	80,494,227	80,521,269
essv24073351	Remapped	Perfect	NC_000016.10:g.804 94227_80521269del	GRCh38.p12	First Pass	NC_000016.10	Chr16	80,494,227	80,521,269
essv24073348	Submitted genomic		NC_000016.9:g.8052 8124_80555166del	GRCh37 (hg19)		NC_000016.9	Chr16	80,528,124	80,555,166
essv24073349	Submitted genomic		NC_000016.9:g.8052 8124_80555166del	GRCh37 (hg19)		NC_000016.9	Chr16	80,528,124	80,555,166
essv24073350	Submitted genomic		NC_000016.9:g.8052 8124_80555166del	GRCh37 (hg19)		NC_000016.9	Chr16	80,528,124	80,555,166
essv24073351	Submitted genomic		NC_000016.9:g.8052 8124_80555166del	GRCh37 (hg19)		NC_000016.9	Chr16	80,528,124	80,555,166

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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