A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762561



Internal ID10375359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:155023651..155029326hg38UCSC Ensembl
Innerchr5:154403211..154408886hg19UCSC Ensembl
Innerchr5:154383404..154389079hg18UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg385676
hg195676
hg185676
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7013244
SamplesRW_0011
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)esv2762561
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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