A curated catalogue of human genomic structural variation




Variant Details

Variant: essv22537



Internal ID9954841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:132389103..132672643hg38UCSC Ensembl
Innerchr8:133401350..133684889hg19UCSC Ensembl
Innerchr8:133470532..133754071hg18UCSC Ensembl
Innerchr8:133470532..133754071hg17UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38283541
hg19283540
hg18283540
hg17283540
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758171
Supporting Variants
SamplesNA07348
Known GenesHPYR1, KCNQ3, LRRC6
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)essv22537
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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