A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14988



Internal ID9612544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:87520842..87742561hg38UCSC Ensembl
Innerchr2:87820361..88042080hg19UCSC Ensembl
Innerchr2:87601476..87823195hg18UCSC Ensembl
Innerchr2:87659623..87881342hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38221720
hg19221720
hg18221720
hg17221720
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757815
Supporting Variants
SamplesNA18870
Known GenesLINC00152, MIR4435-1, MIR4435-2
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)essv14988
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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