A curated catalogue of human genomic structural variation




Variant Details

Variant: essv158



Internal ID9613446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131521008..131956873hg38UCSC Ensembl
Innerchr2:132278581..132714446hg19UCSC Ensembl
Innerchr2:131995051..132430916hg18UCSC Ensembl
Innerchr2:132112313..132548178hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38435866
hg19435866
hg18435866
hg17435866
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757834
Supporting Variants
SamplesNA18968
Known GenesC2orf27A, C2orf27B, CCDC74A, LINC01087, LOC150776, POTEKP, RNU6-81P
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)essv158
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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