A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6128



Internal ID9627894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131023910..131598504hg38UCSC Ensembl
Innerchr2:131781483..132356077hg19UCSC Ensembl
Innerchr2:131497953..132072547hg18UCSC Ensembl
Innerchr2:131615215..132189809hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38574595
hg19574595
hg18574595
hg17574595
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757834
Supporting Variants
SamplesNA18532
Known GenesARHGEF4, CCDC74A, FAM168B, LINC01120, LOC150776, LOC401010, LOC440910, MIR4784, MZT2A, PLEKHB2, POTEE, 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)essv6128
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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