A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763123



Internal ID10375803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:98238651..98243363hg38UCSC Ensembl
Innerchr15:98781880..98786592hg19UCSC Ensembl
Innerchr15:96599403..96604115hg18UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg384713
hg194713
hg184713
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7023545
SamplesRW_0176
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)esv2763123
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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