A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758698



Internal ID9634157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:58565015..58717588hg38UCSC Ensembl
Innerchr17:56642376..56794949hg19UCSC Ensembl
Innerchr17:53997375..54149948hg18UCSC Ensembl
Innerchr17:53997375..54149948hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38152574
hg19152574
hg18152574
hg17152574
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758461
SamplesNA07048, NA19223, NA07034, NA18620
Known GenesRAD51C, TEX14
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)esv2758698
Frequency
Sample Size270
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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