A curated catalogue of human genomic structural variation




Variant Details

Variant: essv20010



Internal ID9618127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:31994..303073hg38UCSC Ensembl
Innerchr9:31994..303073hg19UCSC Ensembl
Innerchr9:21994..293073hg18UCSC Ensembl
Innerchr9:21994..293073hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38271080
hg19271080
hg18271080
hg17271080
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758174
Supporting Variants
SamplesNA07048
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)essv20010
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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