A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2642



Internal ID9970178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:74252280..74418449hg38UCSC Ensembl
Innerchr6:74961996..75128165hg19UCSC Ensembl
Innerchr6:75018716..75184885hg18UCSC Ensembl
Innerchr6:75018716..75184885hg17UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38166170
hg19166170
hg18166170
hg17166170
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758061
Supporting Variants
SamplesNA18967
Known Genes
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)essv2642
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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