A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14789



Internal ID9976094
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 StatusS
Merged Variantsesv2758245
Supporting Variants
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)essv14789
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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