A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758941



Internal ID9981086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:72715929..72841487hg38UCSC Ensembl
Innerchr1:73181612..73307170hg19UCSC Ensembl
Innerchr1:72954200..73079758hg18UCSC Ensembl
Innerchr1:72893633..73019191hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38125559
hg19125559
hg18125559
hg17125559
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757735
SamplesNA18632
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)esv2758941
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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