A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2760410

Internal ID10027773
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1565561..1756248hg38UCSC Ensembl
Innerchr1:1500941..1687687hg19UCSC Ensembl
Innerchr1:1490804..1677547hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7030412, essv7029301, essv7027412, essv7027857, essv7026299, essv7029079, essv7027523, essv7012966, essv7030190, essv7028190, essv7030523, essv7028079, essv7011854, essv7028968, essv7028634, essv7029634, essv7027190, essv7018521, essv7027301, essv7024077, essv7021854, essv7029856, essv7017410, essv7029967, essv7027968, essv7030301, essv7016299, essv7020743, essv7022965, essv7027079, essv7019632, essv7014077, essv7009632, essv7028745, essv7010743, essv7030634, essv7028523, essv7029523, essv7028301, essv7025188, essv7030079, essv7028412, essv7029412, essv7027634, essv7015188, essv7028856, essv7027745, essv7029745, essv7029190
SamplesSW_0119, SW_1149, SW_0639, SW_0831, SW_0086, SW_1483, SW_1372, SW_0589, SW_0144, SW_1243, SW_0061, SW_0773, SW_0856, SW_0020, SW_1189, SW_1147, SW_0120, SW_1366, SW_1103, SW_1302, SW_1414, SW_1139, SW_1404, SW_0818, SW_1335, SW_1083, SW_1448, SW_1086, SW_1485, SW_1262, SW_1459, SW_1428, SW_0072, SW_0805, SW_1120, SW_0187, SW_0058, SW_1156, SW_1455, SW_0198, SW_1396, SW_0200, SW_0789, SW_1289, SW_0760, SW_1436, SW_0648, SW_0062, SW_0060
Known GenesC1orf233, CDK11A, CDK11B, MIB2, MMP23A, MMP23B, NADK, SLC35E2, SLC35E2B, SSU72
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)esv2760410
Sample Size1109
Observed Gain8
Observed Loss41
Observed Complex0

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