A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7012926



Internal ID9997656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:76838952..76858109hg38UCSC Ensembl
Innerchr5:76134777..76153934hg19UCSC Ensembl
Innerchr5:76170533..76189690hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3819158
hg1919158
hg1819158
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762526
Supporting Variants
SamplesRW_0333
Known GenesS100Z
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)essv7012926
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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