A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758174



Internal ID9980251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:31994..383816hg38UCSC Ensembl
Innerchr9:31994..383816hg19UCSC Ensembl
Innerchr9:21994..373816hg18UCSC Ensembl
Innerchr9:21994..373816hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38351823
hg19351823
hg18351823
hg17351823
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759654
Supporting Variantsessv2896, essv7034, essv6378, essv5412, essv3415, essv1889, essv865, essv20010, essv15474
SamplesNA18563, NA07048, NA18572, NA18976, NA19000, NA18945, NA18953, NA18505, NA18612
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)esv2758174
Frequency
Sample Size270
Observed Gain7
Observed Loss2
Observed Complex0
Frequencyn/a


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