A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758680



Internal ID9634139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:20383982..20796527hg38UCSC Ensembl
Innerchr17:20287295..20699840hg19UCSC Ensembl
Innerchr17:20227887..20640432hg18UCSC Ensembl
Innerchr17:20227887..20640432hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38412546
hg19412546
hg18412546
hg17412546
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758445
SamplesNA18960, NA18949, NA19194, NA12057, NA18854, NA19129
Known GenesCCDC144CP, CDRT15L2, KRT16P3, LGALS9B, LOC100287072
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)esv2758680
Frequency
Sample Size270
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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