A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7023357



Internal ID9997167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:64923655..65128399hg38UCSC Ensembl
Innerchr15:65215854..65420737hg19UCSC Ensembl
Innerchr15:63002907..63207790hg18UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg38204745
hg19204884
hg18204884
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763104
Supporting Variants
SamplesRW_0318
Known GenesANKDD1A, KBTBD13, MTFMT, PDCD7, RASL12, SLC51B, SPG21, UBAP1L
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)essv7023357
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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