A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986334



Internal ID12628037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100580485..100749656hg38UCSC Ensembl
Innerchr3:100299329..100468500hg19UCSC Ensembl
Innerchr3:101782019..101951190hg18UCSC Ensembl
Innerchr3:101782019..101951190hg17UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38169172
hg19169172
hg18169172
hg17169172
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751966
Supporting Variants
SamplesBEC_536
Known GenesABI3BP, GPR128, TFG
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986334
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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