A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7031794



Internal ID10013688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181145996..181181617hg38UCSC Ensembl
Innerchr5:180572996..180608617hg19UCSC Ensembl
Innerchr5:180505602..180541223hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3835622
hg1935622
hg1835622
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763893
Supporting Variants
SamplesSW_0831
Known GenesOR2V2
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)essv7031794
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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