A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979907



Internal ID12980946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:78024065..78151021hg38UCSC Ensembl
Innerchr2:78251191..78378147hg19UCSC Ensembl
Innerchr2:78104699..78231655hg18UCSC Ensembl
Innerchr2:78162846..78289802hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38126957
hg19126957
hg18126957
hg17126957
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34750
Supporting Variants
SamplesNA18859
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979907
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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