A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985398



Internal ID12625254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:46431..497479hg38UCSC Ensembl
Innerchr9:46431..497479hg19UCSC Ensembl
Innerchr9:36431..487479hg18UCSC Ensembl
Innerchr9:36431..487479hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38451049
hg19451049
hg18451049
hg17451049
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752306
Supporting Variants
SamplesBEC_131
Known GenesC9orf66, CBWD1, DOCK8, FOXD4, KANK1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985398
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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