A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987029



Internal ID12634699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:131433104..131544776hg38UCSC Ensembl
Innerchr9:134308491..134420163hg19UCSC Ensembl
Innerchr9:133298312..133409984hg18UCSC Ensembl
Innerchr9:131338045..131449717hg17UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg38111673
hg19111673
hg18111673
hg17111673
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34928
Supporting Variants
SamplesNA18967
Known GenesPOMT1, PRRC2B, SNORD62A, SNORD62B, UCK1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987029
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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