A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7016052



Internal ID10331486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8721284..8773132hg38UCSC Ensembl
Innerchr8:8578794..8630642hg19UCSC Ensembl
Innerchr8:8616204..8668052hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3851849
hg1951849
hg1851849
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762724
Supporting Variants
SamplesRW_0001
Known Genes
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)essv7016052
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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