A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979871



Internal ID12980873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:204479771..204483771hg38UCSC Ensembl
Innerchr2:205344494..205348494hg19UCSC Ensembl
Innerchr2:205052739..205056739hg18UCSC Ensembl
Innerchr2:205170000..205174000hg17UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg384001
hg194001
hg184001
hg174001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34706
Supporting Variants
SamplesNA18854
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979871
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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