A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763524



Internal ID10030874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176729717..176857712hg38UCSC Ensembl
Innerchr5:176156718..176284713hg19UCSC Ensembl
Innerchr5:176089324..176217319hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38127996
hg19127996
hg18127996
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7031698
SamplesSW_0624
Known GenesLOC102577424, UNC5A
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)esv2763524
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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