A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19990



Internal ID9618102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86928789..87742561hg38UCSC Ensembl
Innerchr2:87155912..88042080hg19UCSC Ensembl
Innerchr2:87009423..87823195hg18UCSC Ensembl
Innerchr2:87067570..87881342hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38813773
hg19886169
hg18813773
hg17813773
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757815
Supporting Variants
SamplesNA07048
Known GenesLINC00152, LOC285074, MIR4435-1, MIR4435-2, MIR4771-1, MIR4771-2, PLGLB1, PLGLB2, RGPD1, RGPD2
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)essv19990
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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