A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763873



Internal ID10377909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:13148802..13217905hg38UCSC Ensembl
Innerchr5:13148914..13218017hg19UCSC Ensembl
Innerchr5:13201914..13271017hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3869104
hg1969104
hg1869104
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7030810, essv7030809
SamplesSW_1306, SW_0855
Known Genes
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)esv2763873
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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