A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19921



Internal ID9618026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:133123580..133306226hg38UCSC Ensembl
Innerchr6:133444719..133627364hg19UCSC Ensembl
Innerchr6:133486412..133669057hg18UCSC Ensembl
Innerchr6:133486412..133669057hg17UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38182647
hg19182646
hg18182646
hg17182646
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758080
Supporting Variants
SamplesNA12813
Known GenesEYA4
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)essv19921
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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