A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757836



Internal ID9979913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:150600763..150987696hg38UCSC Ensembl
Innerchr2:151457277..151844210hg19UCSC Ensembl
Innerchr2:151165523..151552456hg18UCSC Ensembl
Innerchr2:151282785..151669718hg17UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38386934
hg19386934
hg18386934
hg17386934
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759096
Supporting Variantsessv22918
SamplesNA12760
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)esv2757836
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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