A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761917



Internal ID10029267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:77926994..78002970hg38UCSC Ensembl
Innerchr16:77960891..78036867hg19UCSC Ensembl
Innerchr16:76518392..76594368hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3875977
hg1975977
hg1875977
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7001281
SamplesSW_0172
Known GenesVAT1L
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)esv2761917
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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