A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760417



Internal ID10027780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18540265..18759524hg38UCSC Ensembl
Innerchr16:18551587..18770846hg19UCSC Ensembl
Innerchr16:18459088..18678347hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38219260
hg19219260
hg18219260
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7023631, essv7023629, essv7023628, essv7023630
SamplesRW_0129, RW_0211, RW_0128, RW_0335
Known GenesABCC6P1, NOMO2
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)esv2760417
Frequency
Sample Size1109
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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