A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983862



Internal ID12629368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:46431..370244hg38UCSC Ensembl
Innerchr9:46431..370244hg19UCSC Ensembl
Innerchr9:36431..360244hg18UCSC Ensembl
Innerchr9:36431..360244hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38323814
hg19323814
hg18323814
hg17323814
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752304
Supporting Variants
SamplesBEC_635
Known GenesC9orf66, CBWD1, DOCK8, FOXD4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983862
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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