A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11507



Internal ID9608678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:77351633..77566581hg38UCSC Ensembl
Innerchr10:79111391..79326339hg19UCSC Ensembl
Innerchr10:78781397..78996345hg18UCSC Ensembl
Innerchr10:78781397..78996345hg17UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38214949
hg19214949
hg18214949
hg17214949
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758232, esv2758231
Supporting Variants
SamplesNA19173
Known GenesKCNMA1
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)essv11507
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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