A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758033



Internal ID9633492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180660198..180854476hg38UCSC Ensembl
Innerchr5:180087198..180281476hg19UCSC Ensembl
Innerchr5:180019804..180214082hg18UCSC Ensembl
Innerchr5:180019804..180214082hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38194279
hg19194279
hg18194279
hg17194279
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759399
Supporting Variantsessv20148
SamplesNA07345
Known GenesHEIH, LINC00847, MGAT1, OR2Y1, ZFP62
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)esv2758033
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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