A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760128



Internal ID10027491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:120590025..120720150hg38UCSC Ensembl
Innerchr10:122349537..122479662hg19UCSC Ensembl
Innerchr10:122339527..122469652hg18UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg38130126
hg19130126
hg18130126
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7018869, essv7018870
SamplesRW_0228, RW_0346
Known GenesC10orf85, MIR5694
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)esv2760128
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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