A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758245



Internal ID9980322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:127110261..127440758hg38UCSC Ensembl
Innerchr10:128908525..129239022hg19UCSC Ensembl
Innerchr10:128798515..129129012hg18UCSC Ensembl
Innerchr10:128798515..129129012hg17UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg38330498
hg19330498
hg18330498
hg17330498
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759789
Supporting Variantsessv14789
SamplesNA19159
Known GenesDOCK1, FAM196A
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)esv2758245
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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