A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763438



Internal ID10376118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:13924189..13960082hg38UCSC Ensembl
Innerchr5:13924298..13960191hg19UCSC Ensembl
Innerchr5:13977298..14013191hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3835894
hg1935894
hg1835894
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7030811
SamplesSW_0621
Known GenesDNAH5
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)esv2763438
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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