A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15003



Internal ID9612563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:111440121..111808663hg38UCSC Ensembl
Innerchr2:112197698..112566240hg19UCSC Ensembl
Innerchr2:111914169..112282711hg18UCSC Ensembl
Innerchr2:111913929..112282471hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38368543
hg19368543
hg18368543
hg17368543
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757825
Supporting Variants
SamplesNA18870
Known GenesANAPC1, MIR4435-1HG, MIR4771-1, MIR4771-2
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)essv15003
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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