A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594790



Internal ID6982110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240030265..240044848hg38UCSC Ensembl
Innerchr2:240030265..240044848hg38UCSC Ensembl
Outerchr2:240029765..240045348hg38UCSC Ensembl
chr2:240969682..240984265hg19UCSC Ensembl
Innerchr2:240969682..240984265hg19UCSC Ensembl
Outerchr2:240969182..240984765hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3814584
hg1914584
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10890622, essv10890623
SamplesNA19001, HG03006
Known GenesOR6B2, PRR21
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594790
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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