A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14492



Internal ID9611994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:87018639..87307732hg38UCSC Ensembl
Innerchr2:87245762..87534855hg19UCSC Ensembl
Innerchr2:87099273..87388366hg18UCSC Ensembl
Innerchr2:87157420..87446513hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38289094
hg19289094
hg18289094
hg17289094
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757815
Supporting Variants
SamplesNA19202
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)essv14492
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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