A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760949



Internal ID10028311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:13798710..14182441hg38UCSC Ensembl
Innerchr5:13798819..14182550hg19UCSC Ensembl
Innerchr5:13851819..14235550hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38383732
hg19383732
hg18383732
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7012580, essv7012581, essv7012582
SamplesRW_0538, RW_0187, RW_0639
Known GenesDNAH5, TRIO
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)esv2760949
Frequency
Sample Size1109
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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