A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761925



Internal ID10029275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:81228911..81244433hg38UCSC Ensembl
Innerchr16:81262516..81278038hg19UCSC Ensembl
Innerchr16:79820017..79835539hg18UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3815523
hg1915523
hg1815523
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7001467
SamplesSW_1440
Known GenesBCMO1
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)esv2761925
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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