A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759037



Internal ID9981182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:35012676..35179918hg38UCSC Ensembl
Innerchr2:35237743..35404984hg19UCSC Ensembl
Innerchr2:35091247..35258488hg18UCSC Ensembl
Innerchr2:35149394..35316635hg17UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38167243
hg19167242
hg18167242
hg17167242
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757790
SamplesNA19203
Known Genes
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)esv2759037
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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