A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7001179



Internal ID10020700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55762477..55788532hg38UCSC Ensembl
Innerchr16:55796389..55822444hg19UCSC Ensembl
Innerchr16:54353890..54379945hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3826056
hg1926056
hg1826056
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762032
Supporting Variants
SamplesSW_1221
Known GenesCES1P1
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)essv7001179
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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