A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761606



Internal ID10028959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:79092845..79128367hg38UCSC Ensembl
Innerchr10:80852602..80888124hg19UCSC Ensembl
Innerchr10:80522608..80558130hg18UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg3835523
hg1935523
hg1835523
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6995083
SamplesSW_0822
Known GenesZMIZ1
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)esv2761606
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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