A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759970



Internal ID9635429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:113384114..113556749hg38UCSC Ensembl
Innerchr13:114038429..114211064hg19UCSC Ensembl
Innerchr13:113086430..113259065hg18UCSC Ensembl
Innerchr13:113086430..113259065hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38172636
hg19172636
hg18172636
hg17172636
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758347
SamplesNA12814
Known GenesADPRHL1, DCUN1D2, TMCO3
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)esv2759970
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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