A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988944



Internal ID12984031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:382810..733212hg38UCSC Ensembl
Innerchr9:382810..733212hg19UCSC Ensembl
Innerchr9:372810..723212hg18UCSC Ensembl
Innerchr9:372810..723212hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38350403
hg19350403
hg18350403
hg17350403
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752307
Supporting Variants
SamplesSPC_47
Known GenesDOCK8, KANK1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988944
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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