A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979576



Internal ID12633727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:40910..289061hg38UCSC Ensembl
Innerchr9:40910..289061hg19UCSC Ensembl
Innerchr9:30910..279061hg18UCSC Ensembl
Innerchr9:30910..279061hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38248152
hg19248152
hg18248152
hg17248152
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34714
Supporting Variants
SamplesNA18572
Known GenesC9orf66, CBWD1, DOCK8, FOXD4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979576
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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