A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760169



Internal ID10027532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:4940288..5212591hg38UCSC Ensembl
Innerchr11:4961518..5233821hg19UCSC Ensembl
Innerchr11:4918094..5190397hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38272304
hg19272304
hg18272304
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7019174, essv7019117, essv7019102, essv7019216, essv7019152, essv7019107, essv7019085, essv7019165, essv7019090, essv7019207, essv7019203, essv7019218, essv7019094, essv7019204, essv7019160, essv7019097, essv7019121, essv7019135, essv7019178, essv7019238, essv7019159, essv7019185, essv7019158, essv7019146, essv7019142, essv7019194, essv7019149, essv7019179, essv7019119, essv7019134, essv7019120, essv7019214, essv7019088, essv7019086, essv7019140, essv7019148, essv7019242, essv7019197, essv7019210, essv7019224, essv7019202, essv7019191, essv7019195, essv7019123, essv7019192, essv7019137, essv7019083, essv7019229, essv7019235, essv7019098, essv7019164, essv7019084, essv7019075, essv7019170, essv7019225, essv7019176, essv7019132, essv7019190, essv7019096, essv7019228, essv7019206, essv7019081, essv7019172, essv7019226, essv7019128, essv7019234, essv7019118, essv7019205, essv7019199, essv7019130, essv7019230, essv7019162, essv7019154, essv7019141, essv7019201, essv7019099, essv7019082, essv7019143, essv7019223, essv7019171, essv7019113, essv7019180, essv7019126, essv7019220, essv7019114, essv7019240, essv7019125, essv7019139, essv7019237, essv7019115, essv7019080, essv7019129, essv7019095, essv7019091, essv7019219, essv7019169, essv7019243, essv7019184, essv7019167, essv7019209, essv7019112, essv7019212, essv7019138, essv7019186, essv7019181, essv7019131, essv7019182, essv7019153, essv7019173, essv7019103, essv7019092, essv7019231, essv7019215, essv7019236, essv7019079, essv7019163, essv7019127, essv7019239, essv7019175, essv7019108, essv7019196, essv7019187, essv7019105, essv7019156, essv7019147, essv7019136, essv7019104, essv7019150, essv7019087, essv7019076, essv7019208, essv7019221, essv7019145, essv7019227, essv7019161, essv7019124, essv7019074, essv7019232, essv7019217, essv7019116, essv7019093, essv7019183, essv7019157, essv7019168, essv7019101, essv7019193, essv7019110, essv7019213, essv7019109, essv7019198, essv7019106, essv7019241, essv7019151
SamplesRW_0208, RW_0169, RW_0300, RW_0635, RW_0071, RW_0237, RW_0138, RW_0087, RW_0644, RW_0148, RW_0292, RW_0039, RW_0239, RW_0158, RW_0196, RW_0010, RW_0007, RW_0262, RW_0359, RW_0258, RW_0566, RW_0178, RW_0650, RW_0322, RW_0559, RW_0134, RW_0354, RW_0330, RW_0192, RW_0189, RW_0188, RW_0025, RW_0586, RW_0181, RW_0022, RW_0012, RW_0283, RW_0614, RW_0255, RW_0271, RW_0062, RW_0115, RW_0218, RW_0003, RW_0357, RW_0228, RW_0353, RW_0548, RW_0074, RW_0161, RW_0233, RW_0616, RW_0230, RW_0623, RW_0111, RW_0541, RW_0639, RW_0568, RW_0023, RW_0539, RW_0500, RW_0224, RW_0545, RW_0004, RW_0637, RW_0321, RW_0171, RW_0505, RW_0546, RW_0185, RW_0645, RW_0280, RW_0253, RW_0601, RW_0077, RW_0155, RW_0177, RW_0029, RW_0001, RW_0310, RW_0664, RW_0653, RW_0625, RW_0597, RW_0607, RW_0633, RW_0210, RW_0201, RW_0328, RW_0276, RW_0036, RW_0316, RW_0308, RW_0194, RW_0078, RW_0527, RW_0523, RW_0195, RW_0166, RW_0073, RW_0331, RW_0142, RW_0186, RW_0232, RW_0275, RW_0132, RW_0284, RW_0220, RW_0164, RW_0584, RW_0045, RW_0149, RW_0183, RW_0613, RW_0031, RW_0079, RW_0518, RW_0014, RW_0028, RW_0156, RW_0581, RW_0191, RW_0351, RW_0554, RW_0508, RW_0535, RW_0266, RW_0573, RW_0107, RW_0060, RW_0630
Known GenesMMP26, OR51A2, OR51A4, OR51L1, OR51V1, OR52A1, OR52A5, OR52E2, OR52J3
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)esv2760169
Frequency
Sample Size1109
Observed Gain32
Observed Loss99
Observed Complex0
Frequencyn/a


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