A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758052



Internal ID9633511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:46732445..46960334hg38UCSC Ensembl
Innerchr6:46700182..46928071hg19UCSC Ensembl
Innerchr6:46808141..47036030hg18UCSC Ensembl
Innerchr6:46808141..47036030hg17UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38227890
hg19227890
hg18227890
hg17227890
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759425
Supporting Variantsessv4841, essv6151, essv3403, essv12547, essv2056, essv23907, essv15460, essv24295, essv5372
SamplesNA12814, NA19098, NA18563, NA18949, NA18532, NA10856, NA18945, NA18540, NA18505
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)esv2758052
Frequency
Sample Size270
Observed Gain8
Observed Loss1
Observed Complex0
Frequencyn/a


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