A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633620



Internal ID7020428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113802585..113803664hg38UCSC Ensembl
Innerchr13:113802585..113803664hg38UCSC Ensembl
Outerchr13:113802585..113803664hg38UCSC Ensembl
chr13:114505558..114506637hg19UCSC Ensembl
Innerchr13:114505558..114506637hg19UCSC Ensembl
Outerchr13:114505558..114506637hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381080
hg191080
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14909338, essv14909368, essv14909176, essv14909460, essv14909324, essv14909372, essv14909272, essv14909395, essv14909458, essv14909232, essv14909472, essv14909469, essv14909308, essv14909340, essv14909461, essv14909311, essv14909273, essv14909362, essv14909194, essv14909434, essv14909381, essv14909441, essv14909435, essv14909227, essv14909386, essv14909377, essv14909220, essv14909356, essv14909251, essv14909433, essv14909270, essv14909312, essv14909457, essv14909283, essv14909502, essv14909399, essv14909252, essv14909193, essv14909306, essv14909198, essv14909452, essv14909336, essv14909200, essv14909465, essv14909420, essv14909481, essv14909293, essv14909327, essv14909416, essv14909503, essv14909517, essv14909237, essv14909211, essv14909490, essv14909422, essv14909440, essv14909205, essv14909173, essv14909415, essv14909302, essv14909404, essv14909230, essv14909380, essv14909196, essv14909413, essv14909248, essv14909512, essv14909339, essv14909491, essv14909398, essv14909354, essv14909183, essv14909446, essv14909392, essv14909331, essv14909199, essv14909421, essv14909411, essv14909329, essv14909510, essv14909266, essv14909322, essv14909409, essv14909397, essv14909242, essv14909295, essv14909189, essv14909480, essv14909235, essv14909448, essv14909402, essv14909500, essv14909360, essv14909217, essv14909171, essv14909444, essv14909243, essv14909359, essv14909375, essv14909488, essv14909320, essv14909297, essv14909181, essv14909439, essv14909174, essv14909161, essv14909175, essv14909326, essv14909290, essv14909400, essv14909344, essv14909197, essv14909515, essv14909226, essv14909222, essv14909407, essv14909162, essv14909229, essv14909271, essv14909202, essv14909281, essv14909485, essv14909262, essv14909382, essv14909328, essv14909378, essv14909334, essv14909353, essv14909497, essv14909396, essv14909436, essv14909257, essv14909314, essv14909342, essv14909187, essv14909437, essv14909170, essv14909468, essv14909341, essv14909209, essv14909414, essv14909471, essv14909345, essv14909299, essv14909438, essv14909234, essv14909394, essv14909287, essv14909506, essv14909263, essv14909498, essv14909207, essv14909167, essv14909474, essv14909313, essv14909291, essv14909274, essv14909453, essv14909238, essv14909292, essv14909332, essv14909442, essv14909269, essv14909464, essv14909403, essv14909473, essv14909401, essv14909300, essv14909449, essv14909214, essv14909218, essv14909184, essv14909172, essv14909496, essv14909423, essv14909366, essv14909268, essv14909250, essv14909514, essv14909509, essv14909346, essv14909185, essv14909231, essv14909285, essv14909224, essv14909301, essv14909325, essv14909294, essv14909483, essv14909210, essv14909212, essv14909168, essv14909374, essv14909494, essv14909279, essv14909492, essv14909349, essv14909303, essv14909343, essv14909296, essv14909429, essv14909348, essv14909280, essv14909203, essv14909454, essv14909309, essv14909371, essv14909451, essv14909304, essv14909511, essv14909495, essv14909379, essv14909330, essv14909467, essv14909347, essv14909288, essv14909201, essv14909239, essv14909408, essv14909265, essv14909254, essv14909462, essv14909412, essv14909489, essv14909357, essv14909225, essv14909260, essv14909445, essv14909315, essv14909305, essv14909178, essv14909478, essv14909350, essv14909388, essv14909516, essv14909487, essv14909505, essv14909188, essv14909389, essv14909355, essv14909165, essv14909256, essv14909276, essv14909264, essv14909215, essv14909278, essv14909367, essv14909363, essv14909182, essv14909358, essv14909240, essv14909195, essv14909289, essv14909383, essv14909206, essv14909277, essv14909476, essv14909249, essv14909255, essv14909247, essv14909427, essv14909499, essv14909361, essv14909406, essv14909463, essv14909466, essv14909208, essv14909504, essv14909364, essv14909180, essv14909477, essv14909228, essv14909164, essv14909282, essv14909418, essv14909310, essv14909456, essv14909286, essv14909513, essv14909221, essv14909493, essv14909261, essv14909393, essv14909213, essv14909479, essv14909316, essv14909307, essv14909259, essv14909426, essv14909475, essv14909387, essv14909186, essv14909484, essv14909428, essv14909163, essv14909323, essv14909169, essv14909376, essv14909482, essv14909384, essv14909233, essv14909405, essv14909486, essv14909424, essv14909459, essv14909241, essv14909177, essv14909417, essv14909447, essv14909258, essv14909245, essv14909373, essv14909298, essv14909267, essv14909450, essv14909508, essv14909432, essv14909385, essv14909244, essv14909318, essv14909216, essv14909223, essv14909179, essv14909501, essv14909352, essv14909369, essv14909192, essv14909443, essv14909321, essv14909391, essv14909335, essv14909333, essv14909351, essv14909430, essv14909425, essv14909190, essv14909337, essv14909370, essv14909191, essv14909319, essv14909253, essv14909236, essv14909410, essv14909507, essv14909246, essv14909431, essv14909284, essv14909204, essv14909275, essv14909365, essv14909390, essv14909470, essv14909219, essv14909166, essv14909419, essv14909455, essv14909317
SamplesNA20511, HG02574, HG00189, NA19701, NA20339, HG03593, HG00143, HG00142, HG00102, HG01624, NA20508, NA19664, HG03052, NA19204, NA10851, HG00358, HG02784, NA12843, HG03300, HG00257, HG02727, HG00315, NA20752, NA20802, HG02012, NA19350, HG00181, HG03521, HG01486, NA12340, HG03229, NA20517, HG03372, HG00261, HG00097, NA20771, NA12750, NA12399, NA20806, HG00271, NA20814, NA19446, HG00272, HG00122, NA18597, NA20798, NA19764, HG03808, NA20320, HG01277, HG02840, HG01766, NA20756, HG02756, HG00129, NA18916, NA12762, HG00355, NA19904, HG02816, HG00311, HG00243, HG00158, HG00130, NA19041, NA20518, NA20278, HG00335, NA20775, NA20812, HG00232, HG00113, NA19372, NA19172, HG01525, NA19239, HG01771, HG01058, HG01709, HG01121, HG01626, HG01275, NA20757, HG02477, HG01967, HG01550, NA20515, HG01565, HG01164, HG00154, HG00282, NA19670, HG00332, NA19175, NA12878, NA20885, NA18933, HG00732, NA20521, HG01684, NA20760, HG00132, NA19663, HG03457, HG03491, HG01768, HG00275, HG01675, HG02878, NA12234, HG00740, NA20525, HG03301, NA18879, HG01762, HG00250, NA21086, NA20581, HG00331, NA21112, HG02309, NA06989, HG00140, HG04063, HG03451, HG02601, HG01334, HG03046, NA12144, HG01680, NA19318, HG04159, HG02332, HG01936, NA12778, HG02219, HG01988, HG00240, HG00382, HG00336, NA19712, HG02010, NA19747, NA19019, HG01678, HG01131, HG00353, HG02220, NA12272, NA20527, NA20792, NA20778, NA19679, HG02274, NA19428, HG03870, HG01620, HG01137, HG01489, HG03103, HG01935, NA20289, NA19185, HG02768, NA19770, HG02013, HG00280, NA20758, NA19116, NA20826, NA19780, HG02681, HG02774, HG00274, NA20502, HG02947, HG01431, NA19129, HG01111, HG00171, NA12890, HG01776, HG01786, NA19346, HG01437, HG00553, HG01516, HG01507, NA20762, HG01413, HG00235, HG03559, HG02890, NA19141, HG03800, NA11830, HG01521, HG01054, HG02583, HG01303, NA19466, NA11995, HG03548, HG03237, HG01537, HG01079, HG02433, HG03057, HG00306, NA19020, HG02891, NA20321, NA19393, HG03100, NA12058, NA20346, HG00341, HG02734, HG02285, NA07357, HG01694, HG01500, HG03082, HG01250, NA19792, HG01503, HG03086, HG01070, HG03640, HG03135, HG01064, NA20586, HG00173, NA20769, NA19131, NA11992, HG03105, NA12287, HG02922, HG01242, HG03868, HG01134, NA12282, HG03803, HG00277, HG03268, NA20819, HG01170, HG01495, HG02461, NA20340, HG01527, HG03195, NA19317, NA19725, HG03225, HG02946, NA20764, HG03267, NA20587, HG02882, HG03169, NA20818, HG01353, HG00133, HG01784, HG01183, NA19247, HG01248, NA19657, HG00183, HG02233, HG02334, HG01104, NA19347, HG01162, NA19913, HG02108, HG01612, HG01088, NA19236, NA19982, NA20767, NA20770, NA19776, HG03124, NA21116, HG03021, HG01092, HG01615, HG03563, HG01073, HG01512, NA19118, HG02494, NA11894, HG02008, NA20538, HG01383, HG00321, NA19320, HG03571, NA06985, HG02586, HG01530, HG00128, NA20821, HG01363, HG03028, NA20801, HG04188, NA19321, NA19108, HG03367, HG02223, NA19749, HG02682, HG00357, HG00638, NA20804, NA20785, HG01494, HG02839, HG01260, NA19786, NA20516, NA20797, NA12874, NA07037, HG00256, HG04003, NA20357, HG01395, HG01606, HG01770, HG01491, HG03442, HG02238, HG00378, HG01783, HG00174, HG02462, HG01089, HG03916, HG03615, HG02679, HG01781, HG01883, HG02861, HG01464, HG03611, HG01775, HG01378, NA18488, HG01566, HG02343, NA19153
Known GenesTMEM255B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633620
Frequency
Sample Size2504
Observed Gain0
Observed Loss357
Observed Complex0
Frequencyn/a


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