A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758926



Internal ID9634385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21409691..21615921hg38UCSC Ensembl
Innerchr1:21736184..21942414hg19UCSC Ensembl
Innerchr1:21608771..21815001hg18UCSC Ensembl
Innerchr1:21481490..21687720hg17UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38206231
hg19206231
hg18206231
hg17206231
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757726
SamplesNA19173, NA19154
Known GenesALPL, NBPF3, RAP1GAP
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)esv2758926
Frequency
Sample Size270
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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