A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762864



Internal ID10030214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:50271185..50347655hg38UCSC Ensembl
Innerchr10:52030945..52107415hg19UCSC Ensembl
Innerchr10:51700951..51777421hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3876471
hg1976471
hg1876471
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7018505
SamplesRW_0171
Known GenesSGMS1
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)esv2762864
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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