A curated catalogue of human genomic structural variation




Variant Details

Variant: essv865



Internal ID9630695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:31994..235675hg38UCSC Ensembl
Innerchr9:31994..235675hg19UCSC Ensembl
Innerchr9:21994..225675hg18UCSC Ensembl
Innerchr9:21994..225675hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38203682
hg19203682
hg18203682
hg17203682
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758174
Supporting Variants
SamplesNA19000
Known GenesC9orf66, CBWD1, DOCK8, FAM138C, FOXD4
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)essv865
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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