A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985787



Internal ID12984017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:382810..705168hg38UCSC Ensembl
Innerchr9:382810..705168hg19UCSC Ensembl
Innerchr9:372810..695168hg18UCSC Ensembl
Innerchr9:372810..695168hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38322359
hg19322359
hg18322359
hg17322359
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)essv6985787
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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