A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758996



Internal ID9634455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:212474801..212669761hg38UCSC Ensembl
Innerchr1:212648143..212843103hg19UCSC Ensembl
Innerchr1:210714766..210909726hg18UCSC Ensembl
Innerchr1:209036538..209231498hg17UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38194961
hg19194961
hg18194961
hg17194961
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757770
SamplesNA18552
Known GenesATF3, FAM71A
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)esv2758996
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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