A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7734



Internal ID9629678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:77558306..77819121hg38UCSC Ensembl
Innerchr10:79318064..79578879hg19UCSC Ensembl
Innerchr10:78988070..79248885hg18UCSC Ensembl
Innerchr10:78988070..79248885hg17UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38260816
hg19260816
hg18260816
hg17260816
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758232, esv2758231
Supporting Variants
SamplesNA18633
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)essv7734
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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