A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10682403



Internal ID3060859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134162265..134197840hg38UCSC Ensembl
Innerchr2:134162765..134197340hg38UCSC Ensembl
Outerchr2:134161265..134198840hg38UCSC Ensembl
chr2:134919836..134955411hg19UCSC Ensembl
Innerchr2:134920336..134954911hg19UCSC Ensembl
Outerchr2:134918836..134956411hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3835576
hg1935576
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592551
Supporting Variants
SamplesHG02688
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10682403
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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