A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2760988

Internal ID10028350
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99397365..99404956hg38UCSC Ensembl
Innerchr12:99791143..99798734hg19UCSC Ensembl
Innerchr12:98315274..98322865hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6997506, essv6997507, essv6997498, essv6997528, essv6997521, essv6997504, essv6997533, essv6997541, essv6997529, essv6997525, essv6997515, essv6997538, essv6997517, essv6997544, essv6997553, essv6997536, essv6997537, essv6997540, essv6997555, essv6997546, essv6997516, essv6997554, essv6997530, essv6997535, essv6997512, essv6997543, essv6997548, essv6997531, essv6997501, essv6997502, essv6997547, essv6997551, essv6997519, essv6997518, essv6997527, essv6997514, essv6997520, essv6997539, essv6997558, essv6997496, essv6997499, essv6997526, essv6997509, essv6997513, essv6997549, essv6997524, essv6997550, essv6997532, essv6997557, essv6997542, essv6997552, essv6997497, essv6997508, essv6997505, essv6997510, essv6997503
SamplesSW_0119, SW_1055, SW_0831, SW_0837, SW_1265, SW_1054, SW_1240, SW_0636, SW_1020, SW_1102, SW_0158, SW_1402, SW_0048, SW_0019, SW_0020, SW_0057, SW_0647, SW_0113, SW_0663, SW_1253, SW_0855, SW_0701, SW_1065, SW_1214, SW_1287, SW_1175, SW_1235, SW_0141, SW_1304, SW_1098, SW_1119, SW_0822, SW_1017, SW_1208, SW_0605, SW_1223, SW_1059, SW_0786, SW_1211, SW_1187, SW_1028, SW_1111, SW_1275, SW_0775, SW_1053, SW_1225, SW_0829, SW_0638, SW_1062, SW_0857, SW_0621, SW_1263, SW_1273, SW_1125, SW_1118, SW_1176
Known GenesANKS1B
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)esv2760988
Sample Size1109
Observed Gain1
Observed Loss55
Observed Complex0

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