A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11034



Internal ID9975376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:75137935..75315889hg38UCSC Ensembl
Innerchr5:74433760..74611714hg19UCSC Ensembl
Innerchr5:74469516..74647470hg18UCSC Ensembl
Innerchr5:74469516..74647470hg17UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38177955
hg19177955
hg18177955
hg17177955
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758000
Supporting Variants
SamplesNA19143
Known GenesANKRD31
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)essv11034
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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