A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982145



Internal ID12626589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100623649..100723634hg38UCSC Ensembl
Innerchr3:100342493..100442478hg19UCSC Ensembl
Innerchr3:101825183..101925168hg18UCSC Ensembl
Innerchr3:101825183..101925168hg17UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg3899986
hg1999986
hg1899986
hg1799986
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751965
Supporting Variants
SamplesBEC_396
Known GenesGPR128, TFG
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982145
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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