A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6977962



Internal ID12631712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46424510..46497010hg38UCSC Ensembl
Innerchr2:46651649..46724149hg19UCSC Ensembl
Innerchr2:46505153..46577653hg18UCSC Ensembl
Innerchr2:46563300..46635800hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3872501
hg1972501
hg1872501
hg1772501
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34937
Supporting Variants
SamplesNA10847
Known GenesLOC101805491, TMEM247
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6977962
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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