A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3089



Internal ID9624517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31264805..31529329hg38UCSC Ensembl
Innerchr6:31232582..31497106hg19UCSC Ensembl
Innerchr6:31340561..31605085hg18UCSC Ensembl
Innerchr6:31340561..31605085hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38264525
hg19264525
hg18264525
hg17264525
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758042
Supporting Variants
SamplesNA18969
Known GenesHCG26, HCP5, HLA-B, HLA-C, MCCD1, MICA, MICB, MIR6891
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)essv3089
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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