A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760083



Internal ID10027446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248442451..248655182hg38UCSC Ensembl
Innerchr1:248605752..248818483hg19UCSC Ensembl
Innerchr1:246672375..246885106hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38212732
hg19212732
hg18212732
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7007174, essv7007096, essv7007156, essv7007159, essv7007041, essv7007173, essv7007080, essv7007116, essv7007043, essv7007168, essv7007178, essv7007175, essv7007047, essv7007071, essv7007117, essv7007154, essv7007097, essv7007108, essv7007160, essv7007048, essv7007146, essv7007091, essv7007129, essv7007081, essv7007124, essv7007135, essv7007183, essv7007092, essv7007141, essv7007184, essv7007040, essv7007088, essv7007110, essv7007171, essv7007060, essv7007157, essv7007113, essv7007118, essv7007179, essv7007121, essv7007137, essv7007130, essv7007161, essv7007163, essv7007099, essv7007165, essv7007086, essv7007142, essv7007098, essv7007042, essv7007051, essv7007087, essv7007132, essv7007093, essv7007068, essv7007107, essv7007164, essv7007150, essv7007085, essv7007063, essv7007126, essv7007125, essv7007094, essv7007090, essv7007058, essv7007119, essv7007075, essv7007101, essv7007143, essv7007053, essv7007095, essv7007079, essv7007115, essv7007138, essv7007153, essv7007050, essv7007134, essv7007139, essv7007149, essv7007039, essv7007176, essv7007072, essv7007083, essv7007052, essv7007151, essv7007076, essv7007104, essv7007061, essv7007049, essv7007064, essv7007128, essv7007148, essv7007073, essv7007120, essv7007112, essv7007045, essv7007069, essv7007145, essv7007065, essv7007152, essv7007054, essv7007067, essv7007046, essv7007074, essv7007123, essv7007056, essv7007162, essv7007062, essv7007127, essv7007147, essv7007181, essv7007103, essv7007180, essv7007140, essv7007057, essv7007109, essv7007059, essv7007167, essv7007158, essv7007172, essv7007136, essv7007169, essv7007102, essv7007114, essv7007182, essv7007082, essv7007084, essv7007106, essv7007105, essv7007070, essv7007131, essv7007170
SamplesRW_0213, RW_0234, RW_0281, RW_0101, RW_0118, RW_0220, RW_0357, RW_0629, RW_0325, RW_0164, RW_0193, RW_0539, RW_0176, RW_0221, RW_0197, RW_0029, RW_0222, RW_0348, RW_0624, RW_0013, RW_0002, RW_0269, RW_0184, RW_0093, RW_0036, RW_0289, RW_0273, RW_0111, RW_0614, RW_0258, RW_0608, RW_0578, RW_0354, RW_0067, RW_0521, RW_0541, RW_0014, RW_0272, RW_0162, RW_0021, RW_0509, RW_0208, RW_0237, RW_0028, RW_0144, RW_0604, RW_0071, RW_0344, RW_0223, RW_0316, RW_0087, RW_0300, RW_0519, RW_0224, RW_0666, RW_0248, RW_0250, RW_0616, RW_0088, RW_0046, RW_0534, RW_0643, RW_0633, RW_0210, RW_0632, RW_0528, RW_0665, RW_0170, RW_0637, RW_0106, RW_0212, RW_0092, RW_0216, RW_0267, RW_0618, RW_0023, RW_0043, RW_0627, RW_0361, RW_0276, RW_0112, RW_0039, RW_0171, RW_0007, RW_0576, RW_0174, RW_0110, RW_0207, RW_0511, RW_0148, RW_0575, RW_0601, RW_0263, RW_0003, RW_0550, RW_0564, RW_0132, RW_0195, RW_0662, RW_0095, RW_0241, RW_0324, RW_0149, RW_0074, RW_0169, RW_0117, RW_0147, RW_0061, RW_0017, RW_0530, RW_0527, RW_0555, RW_0025, RW_0635, RW_0006, RW_0124, RW_0203, RW_0008, RW_0554, RW_0053, RW_0652, RW_0254, RW_0257, RW_0032, RW_0330, RW_0586, RW_0606, RW_0202
Known GenesOR2G6, OR2T10, OR2T11, OR2T2, OR2T27, OR2T29, OR2T3, OR2T34, OR2T35, OR2T5
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)esv2760083
Frequency
Sample Size1109
Observed Gain10
Observed Loss122
Observed Complex0
Frequencyn/a


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