A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34706



Internal ID12990742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:204444488..204484001hg38UCSC Ensembl
Innerchr2:205309211..205348724hg19UCSC Ensembl
Innerchr2:205017456..205056969hg18UCSC Ensembl
Innerchr2:205134717..205174230hg17UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg3839514
hg1939514
hg1839514
hg1739514
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988259, essv6979871
SamplesNA18854
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34706
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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