A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2762943

Internal ID10030293
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:35355248..35370946hg38UCSC Ensembl
Innerchr19:35846150..35861848hg19UCSC Ensembl
Innerchr19:40537990..40553688hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7003364, essv7003349, essv7003368, essv7003355, essv7003372, essv7003361, essv7003329, essv7003338, essv7003336, essv7003348, essv7003377, essv7003347, essv7003354, essv7003324, essv7003369, essv7003360, essv7003322, essv7003362, essv7003379, essv7003373, essv7003337, essv7003366, essv7003333, essv7003382, essv7003342, essv7003371, essv7003376, essv7003343, essv7003381, essv7003374, essv7003380, essv7003370, essv7003375, essv7003346, essv7003335, essv7003358, essv7003330, essv7003328, essv7003353, essv7003363, essv7003352, essv7003383, essv7003344, essv7003350, essv7003326, essv7003332, essv7003327, essv7003341, essv7003351, essv7003331, essv7003357, essv7003359, essv7003340, essv7003365, essv7003325, essv7003339
SamplesSW_1484, SW_0089, SW_0059, SW_1483, SW_0813, SW_1128, SW_1094, SW_0801, SW_0640, SW_0197, SW_1286, SW_1361, SW_0061, SW_0833, SW_1000, SW_1127, SW_0020, SW_0057, SW_1021, SW_1026, SW_1228, SW_1189, SW_0632, SW_0647, SW_1029, SW_0625, SW_1288, SW_1450, SW_1031, SW_1510, SW_0888, SW_0090, SW_0701, SW_1065, SW_0586, SW_1157, SW_0505, SW_1460, SW_0102, SW_0032, SW_1144, SW_1206, SW_1285, SW_0058, SW_1070, SW_0146, SW_0170, SW_0049, SW_1464, SW_0017, SW_0175, SW_1038, SW_1517, SW_1043, SW_1436, SW_0062
Known GenesFFAR3
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)esv2762943
Sample Size1109
Observed Gain4
Observed Loss52
Observed Complex0

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