A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762143



Internal ID10029493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1270592..1519404hg38UCSC Ensembl
Innerchr16:1320593..1569405hg19UCSC Ensembl
Innerchr16:1260594..1509406hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38248813
hg19248813
hg18248813
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7000489, essv7000487
SamplesSW_1078, SW_1406
Known GenesBAIAP3, C16orf91, CCDC154, CLCN7, GNPTG, IFT140, PTX4, TELO2, TSR3, UBE2I, UNKL
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)esv2762143
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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