A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761870



Internal ID10029220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:42523535..42529069hg38UCSC Ensembl
Innerchr15:42815733..42821267hg19UCSC Ensembl
Innerchr15:40603025..40608559hg18UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg385535
hg195535
hg185535
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7000051
SamplesSW_1389
Known GenesSNAP23
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)esv2761870
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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