A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4483



Internal ID9626066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131325734..131858730hg38UCSC Ensembl
Innerchr2:132083307..132616303hg19UCSC Ensembl
Innerchr2:131799777..132332773hg18UCSC Ensembl
Innerchr2:131917039..132450035hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38532997
hg19532997
hg18532997
hg17532997
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757834
Supporting Variants
SamplesNA18552
Known GenesC2orf27A, C2orf27B, CCDC74A, LINC01087, LINC01120, LOC150776, LOC401010, MIR4784, MZT2A, POTEKP, RNU6-81P, TUBA3D, WTH3DI
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)essv4483
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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