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dbVar

Database of genomic structural variation

esv3881804

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:2
Validation:Not tested
Clinical Assertions: No
Region Size:31,062

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: 281 SVs from 34 studies. See in: genome view

Remapped(Score: Perfect):52,199,785-52,230,846

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3881804	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	52,199,785	52,230,846
esv3881804	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	49,726,155	49,757,216

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv24459217	copy number loss	NA19729	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,001
essv24459218	copy number gain	NA18642	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,139

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv24459217	Remapped	Perfect	NC_000018.10:g.521 99785_52230846del	GRCh38.p12	First Pass	NC_000018.10	Chr18	52,199,785	52,230,846
essv24459218	Remapped	Perfect	NC_000018.10:g.521 99785_52230846dup	GRCh38.p12	First Pass	NC_000018.10	Chr18	52,199,785	52,230,846
essv24459217	Submitted genomic		NC_000018.9:g.4972 6155_49757216del	GRCh37 (hg19)		NC_000018.9	Chr18	49,726,155	49,757,216
essv24459218	Submitted genomic		NC_000018.9:g.4972 6155_49757216dup	GRCh37 (hg19)		NC_000018.9	Chr18	49,726,155	49,757,216

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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