A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758231



Internal ID9633690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:77351633..77562443hg38UCSC Ensembl
Innerchr10:79111391..79322201hg19UCSC Ensembl
Innerchr10:78781397..78992207hg18UCSC Ensembl
Innerchr10:78781397..78992207hg17UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38210811
hg19210811
hg18210811
hg17210811
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759769
Supporting Variantsessv11507, essv7734
SamplesNA19173, NA18633
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)esv2758231
Frequency
Sample Size270
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer