A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10890722



Internal ID3683855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240267026..240271317hg38UCSC Ensembl
Innerchr2:240267027..240271317hg38UCSC Ensembl
Outerchr2:240267026..240271318hg38UCSC Ensembl
chr2:241206443..241210734hg19UCSC Ensembl
Innerchr2:241206444..241210734hg19UCSC Ensembl
Outerchr2:241206443..241210735hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg384292
hg194292
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594795
Supporting Variants
SamplesHG03291
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10890722
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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