A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2056



Internal ID9618736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:46732445..46923866hg38UCSC Ensembl
Innerchr6:46700182..46891603hg19UCSC Ensembl
Innerchr6:46808141..46999562hg18UCSC Ensembl
Innerchr6:46808141..46999562hg17UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38191422
hg19191422
hg18191422
hg17191422
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758052
Supporting Variants
SamplesNA18949
Known GenesANKRD66, GPR116, MEP1A, PLA2G7
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)essv2056
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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