A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2763673

Internal ID10031023
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54020535..54051587hg38UCSC Ensembl
Innerchr20:52637074..52668126hg19UCSC Ensembl
Innerchr20:52070481..52101533hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7004129, essv7004155, essv7004115, essv7004118, essv7004164, essv7004177, essv7004187, essv7004121, essv7004141, essv7004138, essv7004125, essv7004160, essv7004171, essv7004143, essv7004186, essv7004140, essv7004148, essv7004122, essv7004117, essv7004139, essv7004179, essv7004188, essv7004161, essv7004133, essv7004159, essv7004149, essv7004173, essv7004169, essv7004168, essv7004172, essv7004181, essv7004158, essv7004170, essv7004150, essv7004157, essv7004163, essv7004176, essv7004127, essv7004175, essv7004131, essv7004126, essv7004132, essv7004180, essv7004120, essv7004151, essv7004116, essv7004166, essv7004130, essv7004184, essv7004113, essv7004154, essv7004114, essv7004174, essv7004119, essv7004183, essv7004153, essv7004146, essv7004137, essv7004147, essv7004185, essv7004124, essv7004165, essv7004162, essv7004142, essv7004182, essv7004128, essv7004135, essv7004144, essv7004136, essv7004152
SamplesSW_1229, SW_1346, SW_1377, SW_1122, SW_1192, SW_0771, SW_1405, SW_0160, SW_1303, SW_1372, SW_1064, SW_0030, SW_0189, SW_0640, SW_0118, SW_0589, SW_0241, SW_0185, SW_0590, SW_1210, SW_0872, SW_0165, SW_1299, SW_0773, SW_0214, SW_1009, SW_1370, SW_0295, SW_0369, SW_1030, SW_1000, SW_0020, SW_1163, SW_1547, SW_1292, SW_1375, SW_1446, SW_1415, SW_0855, SW_0627, SW_0091, SW_0047, SW_0016, SW_0579, SW_1282, SW_0199, SW_1073, SW_1168, SW_1270, SW_0634, SW_1254, SW_1278, SW_1017, SW_0805, SW_1206, SW_0575, SW_1275, SW_0354, SW_1466, SW_0077, SW_0857, SW_1273, SW_1038, SW_0198, SW_0577, SW_1066, SW_0045, SW_1176, SW_1042, SW_0582
Known GenesBCAS1
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.
Pubmed ID21179565
Accession Number(s)esv2763673
Sample Size1109
Observed Gain0
Observed Loss70
Observed Complex0

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