A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7023134



Internal ID9993870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:32196673..32339520hg38UCSC Ensembl
Innerchr15:32488874..32631721hg19UCSC Ensembl
Innerchr15:30276166..30419013hg18UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg38142848
hg19142848
hg18142848
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760365
Supporting Variants
SamplesRW_0222
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)essv7023134
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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