A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2760216

Internal ID10027579
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55591984..55842207hg38UCSC Ensembl
Innerchr11:55359460..55609683hg19UCSC Ensembl
Innerchr11:55116036..55366259hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7019899, essv7019918, essv7019935, essv7019984, essv7020001, essv7019897, essv7019975, essv7019917, essv7019969, essv7019946, essv7019960, essv7019898, essv7019902, essv7019961, essv7019983, essv7019995, essv7019916, essv7020004, essv7019934, essv7019929, essv7019940, essv7019957, essv7019988, essv7019928, essv7019942, essv7019990, essv7019994, essv7019979, essv7019993, essv7019930, essv7020006, essv7019913, essv7019937, essv7019943, essv7019919, essv7019970, essv7019982, essv7020002, essv7019924, essv7019926, essv7019959, essv7019968, essv7020007, essv7019941, essv7019953, essv7019945, essv7019999, essv7019925, essv7019963, essv7019972, essv7019920, essv7019901, essv7019971, essv7019958, essv7019980, essv7019932, essv7019981, essv7019987, essv7019949, essv7019976, essv7019973, essv7019931, essv7019992, essv7019895, essv7019952, essv7019915, essv7019998, essv7019910, essv7019997, essv7019927, essv7019977, essv7019903, essv7019906, essv7019962, essv7019912, essv7019947, essv7019956, essv7019951, essv7019996, essv7019948, essv7019938, essv7019908, essv7019991, essv7019974, essv7019950, essv7019907, essv7019904, essv7019939, essv7020005, essv7019914, essv7019936, essv7019923, essv7019954, essv7019965, essv7019896, essv7019985, essv7020003, essv7019986, essv7019964, essv7019921, essv7019909, essv7019905
SamplesRW_0082, RW_0030, RW_0123, RW_0333, RW_0559, RW_0357, RW_0126, RW_0334, RW_0587, RW_0232, RW_0310, RW_0197, RW_0029, RW_0141, RW_0020, RW_0624, RW_0145, RW_0181, RW_0002, RW_0562, RW_0093, RW_0115, RW_0289, RW_0243, RW_0630, RW_0531, RW_0196, RW_0201, RW_0608, RW_0354, RW_0033, RW_0535, RW_0167, RW_0546, RW_0024, RW_0152, RW_0071, RW_0223, RW_0098, RW_0285, RW_0508, RW_0573, RW_0296, RW_0041, RW_0217, RW_0275, RW_0643, RW_0311, RW_0633, RW_0526, RW_0351, RW_0528, RW_0665, RW_0579, RW_0307, RW_0326, RW_0107, RW_0128, RW_0312, RW_0582, RW_0004, RW_0361, RW_0039, RW_0323, RW_0576, RW_0148, RW_0575, RW_0583, RW_0538, RW_0550, RW_0192, RW_0146, RW_0195, RW_0662, RW_0558, RW_0324, RW_0279, RW_0651, RW_0621, RW_0169, RW_0117, RW_0061, RW_0288, RW_0251, RW_0625, RW_0137, RW_0235, RW_0120, RW_0525, RW_0075, RW_0125, RW_0305, RW_0070, RW_0096, RW_0335, RW_0622, RW_0515, RW_0032, RW_0190, RW_0215
Known GenesOR4C11, OR4C6, OR4P4, OR4S2, OR5D13, OR5D14, OR5D16, OR5D18, OR5L1, OR5L2
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)esv2760216
Sample Size1109
Observed Gain0
Observed Loss100
Observed Complex0

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