A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760365



Internal ID10027728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:32166460..32623404hg38UCSC Ensembl
Innerchr15:32458661..32915605hg19UCSC Ensembl
Innerchr15:30245953..30702897hg18UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg38456945
hg19456945
hg18456945
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7023140, essv7023102, essv7023127, essv7023174, essv7023125, essv7023173, essv7023145, essv7023154, essv7023103, essv7023126, essv7023159, essv7023105, essv7023112, essv7023124, essv7023157, essv7023167, essv7023184, essv7023138, essv7023165, essv7023175, essv7023162, essv7023183, essv7023150, essv7023128, essv7023096, essv7023137, essv7023139, essv7023158, essv7023106, essv7023099, essv7023151, essv7023179, essv7023118, essv7023123, essv7023108, essv7023097, essv7023101, essv7023117, essv7023142, essv7023104, essv7023146, essv7023147, essv7023161, essv7023132, essv7023163, essv7023182, essv7023121, essv7023169, essv7023176, essv7023171, essv7023134, essv7023141, essv7023135, essv7023164, essv7023107, essv7023109, essv7023120, essv7023143, essv7023180, essv7023113, essv7023170, essv7023152, essv7023153, essv7023115, essv7023130, essv7023181, essv7023131, essv7023116, essv7023110, essv7023160, essv7023149, essv7023119, essv7023129, essv7023148, essv7023168, essv7023178, essv7023172, essv7023156, essv7023098, essv7023136, essv7023114
SamplesRW_0329, RW_0123, RW_0503, RW_0520, RW_0629, RW_0129, RW_0504, RW_0221, RW_0613, RW_0116, RW_0222, RW_0104, RW_0020, RW_0045, RW_0002, RW_0619, RW_0273, RW_0196, RW_0173, RW_0024, RW_0226, RW_0551, RW_0087, RW_0094, RW_0158, RW_0300, RW_0519, RW_0658, RW_0248, RW_0529, RW_0250, RW_0041, RW_0249, RW_0633, RW_0063, RW_0210, RW_0351, RW_0200, RW_0524, RW_0212, RW_0267, RW_0043, RW_0085, RW_0648, RW_0178, RW_0099, RW_0156, RW_0260, RW_0039, RW_0323, RW_0007, RW_0576, RW_0110, RW_0511, RW_0286, RW_0601, RW_0564, RW_0192, RW_0146, RW_0662, RW_0078, RW_0047, RW_0349, RW_0149, RW_0246, RW_0590, RW_0266, RW_0636, RW_0602, RW_0048, RW_0139, RW_0203, RW_0594, RW_0177, RW_0202
Known GenesARHGAP11A, CHRNA7, GOLGA8K, GOLGA8O, GOLGA8R, LOC100996255, ULK4P1, ULK4P2, ULK4P3, WHAMMP1
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)esv2760365
Frequency
Sample Size1109
Observed Gain45
Observed Loss30
Observed Complex0
Frequencyn/a


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