A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762287



Internal ID10029637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83160649..83177919hg38UCSC Ensembl
Innerchr16:83194254..83211524hg19UCSC Ensembl
Innerchr16:81751755..81769025hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3817271
hg1917271
hg1817271
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7001484, essv7001473, essv7001482, essv7001479, essv7001475, essv7001481, essv7001480, essv7001472, essv7001476, essv7001485, essv7001474, essv7001478, essv7001483, essv7001471
SamplesSW_1439, SW_1034, SW_0005, SW_0836, SW_1086, SW_1222, SW_0835, SW_0847, SW_0103, SW_1080, SW_1140, SW_0001, SW_0045, SW_0861
Known GenesCDH13
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)esv2762287
Frequency
Sample Size1109
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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