A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14702



Internal ID9612228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:87018639..87216679hg38UCSC Ensembl
Innerchr2:87245762..87443802hg19UCSC Ensembl
Innerchr2:87099273..87297313hg18UCSC Ensembl
Innerchr2:87157420..87355460hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38198041
hg19198041
hg18198041
hg17198041
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757815
Supporting Variants
SamplesNA19159
Known GenesLOC285074, MIR4771-1, MIR4771-2, PLGLB1, PLGLB2
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)essv14702
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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