A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985788



Internal ID12984018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:384058..723773hg38UCSC Ensembl
Innerchr9:384058..723773hg19UCSC Ensembl
Innerchr9:374058..713773hg18UCSC Ensembl
Innerchr9:374058..713773hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38339716
hg19339716
hg18339716
hg17339716
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985788
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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