A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758948



Internal ID9634407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:88946385..89095040hg38UCSC Ensembl
Innerchr1:89412068..89560723hg19UCSC Ensembl
Innerchr1:89184656..89333311hg18UCSC Ensembl
Innerchr1:89124089..89272744hg17UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38148656
hg19148656
hg18148656
hg17148656
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757739
SamplesNA10831, NA19194, NA19223, NA18529, NA12005, NA19144, NA19210, NA18632, NA19161, NA11840, NA18854, NA07048, NA19000, NA19129, NA19094, NA19206, NA19154, NA19159, NA18987, NA19101, NA19132, NA19099, NA11829, NA19171, NA12874, NA18532, NA18981
Known GenesCCBL2, GBP1, GBP3, RBMXL1
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)esv2758948
Frequency
Sample Size270
Observed Gain27
Observed Loss0
Observed Complex0
Frequencyn/a


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