A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759195



Internal ID9981340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:161732205..161875982hg38UCSC Ensembl
Innerchr3:161449993..161593770hg19UCSC Ensembl
Innerchr3:162932687..163076464hg18UCSC Ensembl
Innerchr3:162932695..163076472hg17UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg38143778
hg19143778
hg18143778
hg17143778
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757901
SamplesNA12248, NA18523
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)esv2759195
Frequency
Sample Size270
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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