A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764113



Internal ID10378149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:126825006..126925782hg38UCSC Ensembl
Innerchr10:128513575..128614351hg19UCSC Ensembl
Innerchr10:128503565..128604341hg18UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg38100777
hg19100777
hg18100777
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6995248, essv6995249
SamplesSW_0832, SW_0626
Known GenesDOCK1
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)esv2764113
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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