A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758210



Internal ID9633669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:7381534..7695776hg38UCSC Ensembl
Innerchr10:7423496..7737739hg19UCSC Ensembl
Innerchr10:7463502..7777745hg18UCSC Ensembl
Innerchr10:7463502..7777745hg17UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg38314243
hg19314244
hg18314244
hg17314244
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759732
Supporting Variantsessv5174
SamplesNA18611
Known GenesITIH5, SFMBT2
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)esv2758210
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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