A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763091



Internal ID10030441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:33142844..33147213hg38UCSC Ensembl
Innerchr15:33435045..33439414hg19UCSC Ensembl
Innerchr15:31222337..31226706hg18UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg384370
hg194370
hg184370
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7023186
SamplesRW_0029
Known GenesFMN1
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)esv2763091
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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