A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758368



Internal ID9633827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:103681188..103946476hg38UCSC Ensembl
Innerchr14:104147525..104412813hg19UCSC Ensembl
Innerchr14:103217278..103482566hg18UCSC Ensembl
Innerchr14:103217278..103482566hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38265289
hg19265289
hg18265289
hg17265289
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2760013
Supporting Variantsessv23404
SamplesNA10854
Known GenesC14orf2, KLC1, LINC00637, PPP1R13B, RD3L, TDRD9, XRCC3, ZFYVE21
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)esv2758368
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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