A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594379



Internal ID6981699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:220349499..220361314hg38UCSC Ensembl
Innerchr2:220349507..220361307hg38UCSC Ensembl
Outerchr2:220349492..220361322hg38UCSC Ensembl
chr2:221214220..221226035hg19UCSC Ensembl
Innerchr2:221214228..221226028hg19UCSC Ensembl
Outerchr2:221214213..221226043hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3811816
hg1911816
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10858321
SamplesNA19118
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594379
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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