A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762311



Internal ID10029661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75505510..75542100hg38UCSC Ensembl
Innerchr16:75539408..75575998hg19UCSC Ensembl
Innerchr16:74096909..74133499hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3836591
hg1936591
hg1836591
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv54e203
Supporting Variantsessv7001272, essv7001271, essv7001274, essv7001269, essv7001276, essv7001273, essv7001278, essv7001270, essv7001275
SamplesSW_0841, SW_1199, SW_1288, SW_1428, SW_0663, SW_1083, SW_1156, SW_1416, SW_0159
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)esv2762311
Frequency
Sample Size1109
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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