A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760952



Internal ID10377259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:10032223..10058521hg38UCSC Ensembl
Innerchr5:10032335..10058633hg19UCSC Ensembl
Innerchr5:10085335..10111633hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3826299
hg1926299
hg1826299
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7012532, essv7012531
SamplesRW_0269, RW_0021
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)esv2760952
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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