A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7013018



Internal ID10002114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:116100811..116120010hg38UCSC Ensembl
Innerchr5:115436508..115455707hg19UCSC Ensembl
Innerchr5:115464407..115483606hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3819200
hg1919200
hg1819200
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762538
Supporting Variants
SamplesRW_0600
Known GenesCOMMD10
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)essv7013018
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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