A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760405



Internal ID10027768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83650340..83657582hg38UCSC Ensembl
Innerchr16:83683945..83691187hg19UCSC Ensembl
Innerchr16:82241446..82248688hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg387243
hg197243
hg187243
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7024042, essv7024040, essv7024041
SamplesRW_0560, RW_0246, RW_0507
Known GenesCDH13
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)esv2760405
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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