A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760180



Internal ID10376488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5761695..5795055hg38UCSC Ensembl
Innerchr11:5782925..5816285hg19UCSC Ensembl
Innerchr11:5739501..5772861hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3833361
hg1933361
hg1833361
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv17e203
Supporting Variantsessv7019371, essv7019313, essv7019261, essv7019368, essv7019394, essv7019310, essv7019283, essv7019306, essv7019275, essv7019348, essv7019402, essv7019341, essv7019318, essv7019324, essv7019372, essv7019350, essv7019312, essv7019376, essv7019276, essv7019405, essv7019343, essv7019259, essv7019357, essv7019272, essv7019252, essv7019369, essv7019285, essv7019345, essv7019325, essv7019269, essv7019289, essv7019367, essv7019262, essv7019380, essv7019361, essv7019267, essv7019331, essv7019378, essv7019373, essv7019353, essv7019393, essv7019338, essv7019356, essv7019279, essv7019323, essv7019260, essv7019354, essv7019335, essv7019293, essv7019282, essv7019349, essv7019339, essv7019336, essv7019317, essv7019263, essv7019397, essv7019389, essv7019326, essv7019301, essv7019363, essv7019330, essv7019253, essv7019287, essv7019379, essv7019320, essv7019351, essv7019342, essv7019315, essv7019280, essv7019303, essv7019340, essv7019319, essv7019360, essv7019284, essv7019270, essv7019309, essv7019314, essv7019395, essv7019383, essv7019387, essv7019254, essv7019400, essv7019392, essv7019297, essv7019251, essv7019385, essv7019365, essv7019382, essv7019375, essv7019294, essv7019291, essv7019304, essv7019264, essv7019403, essv7019328, essv7019334, essv7019346, essv7019281, essv7019257, essv7019295, essv7019274, essv7019381, essv7019358, essv7019362, essv7019321, essv7019374, essv7019286, essv7019305, essv7019384, essv7019347, essv7019296, essv7019268, essv7019290, essv7019271, essv7019352, essv7019332, essv7019327, essv7019302, essv7019292, essv7019370, essv7019316, essv7019396, essv7019404, essv7019308, essv7019307, essv7019386, essv7019265, essv7019398, essv7019298, essv7019249, essv7019273, essv7019278, essv7019359, essv7019256, essv7019391, essv7019364, essv7019390, essv7019250, essv7019337, essv7019329, essv7019258, essv7019401
SamplesRW_0208, RW_0274, RW_0059, RW_0660, RW_0123, RW_0585, RW_0071, RW_0138, RW_0583, RW_0087, RW_0636, RW_0644, RW_0148, RW_0292, RW_0553, RW_0329, RW_0039, RW_0101, RW_0323, RW_0345, RW_0007, RW_0582, RW_0152, RW_0606, RW_0270, RW_0322, RW_0146, RW_0658, RW_0188, RW_0586, RW_0217, RW_0096, RW_0011, RW_0504, RW_0254, RW_0179, RW_0617, RW_0549, RW_0334, RW_0510, RW_0271, RW_0137, RW_0125, RW_0062, RW_0503, RW_0216, RW_0082, RW_0533, RW_0603, RW_0218, RW_0358, RW_0536, RW_0112, RW_0267, RW_0024, RW_0528, RW_0161, RW_0616, RW_0506, RW_0558, RW_0631, RW_0541, RW_0639, RW_0023, RW_0173, RW_0118, RW_0500, RW_0324, RW_0061, RW_0602, RW_0349, RW_0197, RW_0576, RW_0505, RW_0094, RW_0619, RW_0185, RW_0318, RW_0531, RW_0608, RW_0279, RW_0601, RW_0286, RW_0346, RW_0002, RW_0077, RW_0611, RW_0593, RW_0296, RW_0211, RW_0177, RW_0029, RW_0250, RW_0310, RW_0288, RW_0257, RW_0327, RW_0633, RW_0212, RW_0260, RW_0201, RW_0088, RW_0578, RW_0316, RW_0068, RW_0523, RW_0521, RW_0120, RW_0042, RW_0341, RW_0145, RW_0331, RW_0669, RW_0235, RW_0200, RW_0632, RW_0273, RW_0662, RW_0164, RW_0119, RW_0621, RW_0045, RW_0599, RW_0149, RW_0124, RW_0079, RW_0665, RW_0646, RW_0612, RW_0033, RW_0361, RW_0209, RW_0057, RW_0351, RW_0063, RW_0234, RW_0072, RW_0018, RW_0554, RW_0550, RW_0084, RW_0162
Known GenesOR52N1, OR52N5
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)esv2760180
Frequency
Sample Size1109
Observed Gain0
Observed Loss142
Observed Complex0
Frequencyn/a


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