A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10890623



Internal ID5540202
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594790
Supporting Variants
SamplesNA19001
Known GenesOR6B2, PRR21
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10890623
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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