A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762943



Internal ID10030293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:35355248..35370946hg38UCSC Ensembl
Innerchr19:35846150..35861848hg19UCSC Ensembl
Innerchr19:40537990..40553688hg18UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3815699
hg1915699
hg1815699
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
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)esv2762943
Frequency
Sample Size1109
Observed Gain4
Observed Loss52
Observed Complex0
Frequencyn/a


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