A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758917



Internal ID9981062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:5229707..5476618hg38UCSC Ensembl
Innerchr1:5289767..5536678hg19UCSC Ensembl
Innerchr1:5189627..5459265hg18UCSC Ensembl
Innerchr1:5200140..5470944hg17UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38246912
hg19246912
hg18269639
hg17270805
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757720
SamplesNA19003
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)esv2758917
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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