A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979578



Internal ID12633726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:150524..302324hg38UCSC Ensembl
Innerchr9:150524..302324hg19UCSC Ensembl
Innerchr9:140524..292324hg18UCSC Ensembl
Innerchr9:140524..292324hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38151801
hg19151801
hg18151801
hg17151801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34714
Supporting Variants
SamplesNA18572
Known GenesC9orf66, CBWD1, DOCK8
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979578
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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