A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979323



Internal ID12633318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:71778953..71858453hg38UCSC Ensembl
Innerchr12:72172733..72252233hg19UCSC Ensembl
Innerchr12:70459000..70538500hg18UCSC Ensembl
Innerchr12:70459000..70538500hg17UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3879501
hg1979501
hg1879501
hg1779501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35030
Supporting Variants
SamplesNA18529
Known GenesMRS2P2, RAB21, TBC1D15
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979323
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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