A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17927



Internal ID9615810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:62107311..62391990hg38UCSC Ensembl
Innerchr5:61403138..61687817hg19UCSC Ensembl
Innerchr5:61438895..61723574hg18UCSC Ensembl
Innerchr5:61438895..61723574hg17UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38284680
hg19284680
hg18284680
hg17284680
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757996
Supporting Variants
SamplesNA12003
Known GenesDIMT1, KIF2A
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)essv17927
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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