A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758232



Internal ID9633691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:77562443..77819121hg38UCSC Ensembl
Innerchr10:79322201..79578879hg19UCSC Ensembl
Innerchr10:78992207..79248885hg18UCSC Ensembl
Innerchr10:78992207..79248885hg17UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38256679
hg19256679
hg18256679
hg17256679
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759769
Supporting Variantsessv11507, essv7734
SamplesNA18633, NA19173
Known GenesDLG5, KCNMA1
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)esv2758232
Frequency
Sample Size270
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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