A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759930



Internal ID9982075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:34296809..34462065hg38UCSC Ensembl
Innerchr13:34870946..35036202hg19UCSC Ensembl
Innerchr13:33768946..33934202hg18UCSC Ensembl
Innerchr13:33768946..33934202hg17UCSC Ensembl
Cytoband13q13.2
Allele length
AssemblyAllele length
hg38165257
hg19165257
hg18165257
hg17165257
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758326
SamplesNA12801, NA12813, NA19161, NA19000, NA12864, NA07348, NA07056, NA19129
Known GenesLINC00457
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)esv2759930
Frequency
Sample Size270
Observed Gain1
Observed Loss7
Observed Complex0
Frequencyn/a


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