A curated catalogue of human genomic structural variation




Variant Details

Variant: essv22188



Internal ID9620545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:87018639..87742561hg38UCSC Ensembl
Innerchr2:87245762..88042080hg19UCSC Ensembl
Innerchr2:87099273..87823195hg18UCSC Ensembl
Innerchr2:87157420..87881342hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38723923
hg19796319
hg18723923
hg17723923
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757815
Supporting Variants
SamplesNA12044
Known GenesLINC00152, LOC285074, MIR4435-1, MIR4435-2, 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)essv22188
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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