A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7001276



Internal ID10020192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75524185..75542100hg38UCSC Ensembl
Innerchr16:75558083..75575998hg19UCSC Ensembl
Innerchr16:74115584..74133499hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3817916
hg1917916
hg1817916
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762311
Supporting Variants
SamplesSW_1199
Known GenesCHST5, TMEM231
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)essv7001276
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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