A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760436



Internal ID10027799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55761039..55837223hg38UCSC Ensembl
Innerchr16:55794951..55871135hg19UCSC Ensembl
Innerchr16:54352452..54428636hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3876185
hg1976185
hg1876185
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv52e203
Supporting Variantsessv7023894, essv7023903, essv7023893, essv7023898, essv7023906, essv7023897, essv7023884, essv7023904, essv7023902, essv7023879, essv7023875, essv7023871, essv7023872, essv7023878, essv7023876, essv7023907, essv7023900, essv7023889, essv7023882, essv7023880, essv7023908, essv7023890, essv7023881, essv7023892, essv7023886, essv7023891, essv7023873, essv7023885, essv7023887, essv7023895, essv7023896, essv7023901, essv7023905, essv7023874, essv7023883
SamplesRW_0644, RW_0239, RW_0178, RW_0134, RW_0192, RW_0271, RW_0315, RW_0624, RW_0174, RW_0358, RW_0540, RW_0500, RW_0349, RW_0171, RW_0253, RW_0155, RW_0571, RW_0521, RW_0120, RW_0562, RW_0190, RW_0013, RW_0164, RW_0652
Known GenesCES1, CES1P1
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)esv2760436
Frequency
Sample Size1109
Observed Gain11
Observed Loss24
Observed Complex0
Frequencyn/a


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