A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759425



Internal ID9634884
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 Variants
Supporting Variantsesv2758052
SamplesNA18505, NA18949, NA18563, NA12814, NA19098, NA10856, NA18540, NA18945, NA18532
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)esv2759425
Frequency
Sample Size270
Observed Gain8
Observed Loss1
Observed Complex0
Frequencyn/a


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