A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10890733



Internal ID1828922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240383051..240403486hg38UCSC Ensembl
Innerchr2:240383058..240403480hg38UCSC Ensembl
Outerchr2:240383045..240403493hg38UCSC Ensembl
chr2:241322468..241342903hg19UCSC Ensembl
Innerchr2:241322475..241342897hg19UCSC Ensembl
Outerchr2:241322462..241342910hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3820436
hg1920436
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594797
Supporting Variants
SamplesHG01700
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10890733
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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