A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983128



Internal ID12628166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:46431..254327hg38UCSC Ensembl
Innerchr9:46431..254327hg19UCSC Ensembl
Innerchr9:36431..244327hg18UCSC Ensembl
Innerchr9:36431..244327hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38207897
hg19207897
hg18207897
hg17207897
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752303
Supporting Variants
SamplesBEC_544
Known GenesC9orf66, CBWD1, DOCK8, FOXD4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983128
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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