A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980584



Internal ID12635983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:112598225..112819173hg38UCSC Ensembl
Innerchr9:115360505..115581453hg19UCSC Ensembl
Innerchr9:114400326..114621274hg18UCSC Ensembl
Innerchr9:112440060..112661008hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38220949
hg19220949
hg18220949
hg17220949
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34346
Supporting Variants
SamplesNA19211
Known GenesINIP, KIAA1958, SNX30
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980584
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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