A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760394



Internal ID10027757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:31005662..31014026hg38UCSC Ensembl
Innerchr15:31297865..31306229hg19UCSC Ensembl
Innerchr15:29085157..29093521hg18UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg388365
hg198365
hg188365
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7023086, essv7023087, essv7023085
SamplesRW_0201, RW_0237, RW_0625
Known GenesTRPM1
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)esv2760394
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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