A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988378



Internal ID12626376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100593655..100760540hg38UCSC Ensembl
Innerchr3:100312499..100479384hg19UCSC Ensembl
Innerchr3:101795189..101962074hg18UCSC Ensembl
Innerchr3:101795189..101962074hg17UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38166886
hg19166886
hg18166886
hg17166886
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751969
Supporting Variants
SamplesBEC_374
Known GenesABI3BP, GPR128, TFG
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988378
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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