A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7001460



Internal ID10356166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:80455032..80476086hg38UCSC Ensembl
Innerchr16:80488929..80509983hg19UCSC Ensembl
Innerchr16:79046430..79067484hg18UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3821055
hg1921055
hg1821055
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762333
Supporting Variants
SamplesSW_0352
Known Genes
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)essv7001460
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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