A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762188



Internal ID10029538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:69942130..70247875hg38UCSC Ensembl
Innerchr16:69976033..70281778hg19UCSC Ensembl
Innerchr16:68533534..68839279hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38305746
hg19305746
hg18305746
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7001254, essv7001239, essv7001230, essv7001249, essv7001238, essv7001235, essv7001241, essv7001232, essv7001248, essv7001252, essv7001242, essv7001250, essv7001236, essv7001253, essv7001229, essv7001245, essv7001247, essv7001231, essv7001234, essv7001237, essv7001251, essv7001246, essv7001240, essv7001243, essv7001256
SamplesSW_1371, SW_1501, SW_1470, SW_1000, SW_0790, SW_1413, SW_1569, SW_0116, SW_0090, SW_1404, SW_0269, SW_1477, SW_1365, SW_0172, SW_0822, SW_0201, SW_1322, SW_0004, SW_1063, SW_1008, SW_0200, SW_1472, SW_1436, SW_1480, SW_0101
Known GenesCLEC18A, CLEC18C, LOC100506060, MIR1972-1, MIR1972-2, PDPR, PDXDC2P
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)esv2762188
Frequency
Sample Size1109
Observed Gain14
Observed Loss11
Observed Complex0
Frequencyn/a


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