A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986901



Internal ID12633745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:46431..271132hg38UCSC Ensembl
Innerchr9:46431..271132hg19UCSC Ensembl
Innerchr9:36431..261132hg18UCSC Ensembl
Innerchr9:36431..261132hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38224702
hg19224702
hg18224702
hg17224702
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34610
Supporting Variants
SamplesNA18576
Known GenesC9orf66, CBWD1, DOCK8, FOXD4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986901
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer