A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758073



Internal ID9633532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:104748215..105212934hg38UCSC Ensembl
Innerchr6:105196090..105660809hg19UCSC Ensembl
Innerchr6:105302783..105767502hg18UCSC Ensembl
Innerchr6:105302783..105767502hg17UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg38464720
hg19464720
hg18464720
hg17464720
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759461
Supporting Variantsessv24052, essv17664
SamplesNA11881, NA10859
Known GenesBVES, BVES-AS1, HACE1, LIN28B, LINC00577, POPDC3
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)esv2758073
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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