A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979450



Internal ID12980204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:78066619..78186219hg38UCSC Ensembl
Innerchr2:78293745..78413345hg19UCSC Ensembl
Innerchr2:78147253..78266853hg18UCSC Ensembl
Innerchr2:78205400..78325000hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38119601
hg19119601
hg18119601
hg17119601
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34528
Supporting Variants
SamplesNA18558
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979450
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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