A curated catalogue of human genomic structural variation




Variant Details

Variant: essv20022



Internal ID9618140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131023910..131956873hg38UCSC Ensembl
Innerchr2:131781483..132714446hg19UCSC Ensembl
Innerchr2:131497953..132430916hg18UCSC Ensembl
Innerchr2:131615215..132548178hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38932964
hg19932964
hg18932964
hg17932964
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757834
Supporting Variants
SamplesNA07048
Known GenesARHGEF4, C2orf27A, C2orf27B, CCDC74A, FAM168B, LINC01087, 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)essv20022
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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