A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759453



Internal ID9634912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:87108165..87283239hg38UCSC Ensembl
Innerchr6:87817883..87992957hg19UCSC Ensembl
Innerchr6:87874602..88049676hg18UCSC Ensembl
Innerchr6:87874602..88049676hg17UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg38175075
hg19175075
hg18175075
hg17175075
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758067
SamplesNA19139
Known GenesGJB7, ZNF292
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)esv2759453
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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