A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2763630

Internal ID10030980
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97065396..97662587hg38UCSC Ensembl
Innerchr2:97731133..98279050hg19UCSC Ensembl
Innerchr2:97094860..97645482hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7016412, essv7016756, essv7016634, essv7016367, essv7016445, essv7016467, essv7016578, essv7016434, essv7016811, essv7016545, essv7016523, essv7016489, essv7016511, essv7016745, essv7016478, essv7016500, essv7016789, essv7016312, essv7016567, essv7016556, essv7016534, essv7016689, essv7016345, essv7016767, essv7016622, essv7016645, essv7016400, essv7016733, essv7016833, essv7016778, essv7016423, essv7016656, essv7016722, essv7016323, essv7016678, essv7016700, essv7016667, essv7016600, essv7016356, essv7016378, essv7016389, essv7016611, essv7016822, essv7016800, essv7016589, essv7016334, essv7016711, essv7016456
SamplesSW_0569, SW_0804, SW_1056, SW_0626, SW_1301, SW_0628, SW_0803, SW_0589, SW_0650, SW_1212, SW_0581, SW_0148, SW_0606, SW_1138, SW_0158, SW_1021, SW_1228, SW_1081, SW_1130, SW_1051, SW_0592, SW_1282, SW_0836, SW_1262, SW_1106, SW_0884, SW_1433, SW_0605, SW_0008, SW_0618, SW_0375, SW_0032, SW_1090, SW_0791, SW_1028, SW_1111, SW_0594, SW_0660, SW_0200, SW_1150, SW_1176, SW_0762, SW_0832, SW_1143, SW_1504, SW_1043, SW_0060
Known GenesACTR1B, ANKRD36, ANKRD36B, COX5B, FAHD2B, LOC100506076, LOC100506123
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)esv2763630
Sample Size1109
Observed Gain5
Observed Loss42
Observed Complex0

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