A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14648



Internal ID9972681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:78180759..78483751hg38UCSC Ensembl
Innerchr6:78890476..79193468hg19UCSC Ensembl
Innerchr6:78947195..79250187hg18UCSC Ensembl
Innerchr6:78947195..79250187hg17UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38302993
hg19302993
hg18302993
hg17302993
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758064
Supporting Variants
SamplesNA19093
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)essv14648
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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