A curated catalogue of human genomic structural variation




Variant Details

Variant: essv20931



Internal ID9619149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:122402790..122562992hg38UCSC Ensembl
Innerchr6:122723935..122884137hg19UCSC Ensembl
Innerchr6:122765634..122925836hg18UCSC Ensembl
Innerchr6:122765634..122925836hg17UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38160203
hg19160203
hg18160203
hg17160203
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758077
Supporting Variants
SamplesNA12801
Known GenesHSF2, PKIB, SERINC1
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)essv20931
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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