A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586190



Internal ID6626503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59640577..59641432hg38UCSC Ensembl
Innerchr1:59640578..59641431hg38UCSC Ensembl
Outerchr1:59640576..59641433hg38UCSC Ensembl
chr1:60106249..60107104hg19UCSC Ensembl
Innerchr1:60106250..60107103hg19UCSC Ensembl
Outerchr1:60106248..60107105hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38856
hg19856
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9945380, essv9945284, essv9945338, essv9945359, essv9945390, essv9945376, essv9945400, essv9945303, essv9945311, essv9945312, essv9945403, essv9945347, essv9945353, essv9945241, essv9945351, essv9945232, essv9945339, essv9945356, essv9945235, essv9945301, essv9945247, essv9945306, essv9945287, essv9945355, essv9945358, essv9945305, essv9945398, essv9945382, essv9945399, essv9945384, essv9945296, essv9945385, essv9945410, essv9945274, essv9945333, essv9945369, essv9945357, essv9945375, essv9945240, essv9945261, essv9945377, essv9945316, essv9945291, essv9945283, essv9945383, essv9945328, essv9945253, essv9945250, essv9945244, essv9945290, essv9945256, essv9945289, essv9945381, essv9945298, essv9945370, essv9945343, essv9945309, essv9945321, essv9945277, essv9945332, essv9945288, essv9945374, essv9945260, essv9945345, essv9945270, essv9945395, essv9945273, essv9945272, essv9945401, essv9945251, essv9945362, essv9945292, essv9945266, essv9945372, essv9945386, essv9945271, essv9945329, essv9945367, essv9945320, essv9945387, essv9945267, essv9945319, essv9945275, essv9945364, essv9945391, essv9945268, essv9945323, essv9945396, essv9945392, essv9945408, essv9945365, essv9945264, essv9945393, essv9945308, essv9945313, essv9945248, essv9945300, essv9945331, essv9945371, essv9945389, essv9945363, essv9945324, essv9945327, essv9945233, essv9945236, essv9945258, essv9945373, essv9945379, essv9945360, essv9945361, essv9945336, essv9945352, essv9945269, essv9945239, essv9945255, essv9945307, essv9945237, essv9945350, essv9945314, essv9945252, essv9945293, essv9945412, essv9945397, essv9945326, essv9945342, essv9945368, essv9945245, essv9945242, essv9945405, essv9945249, essv9945295, essv9945276, essv9945294, essv9945330, essv9945278, essv9945262, essv9945279, essv9945349, essv9945286, essv9945282, essv9945334, essv9945409, essv9945246, essv9945340, essv9945304, essv9945310, essv9945315, essv9945281, essv9945366, essv9945257, essv9945325, essv9945388, essv9945354, essv9945238, essv9945341, essv9945243, essv9945346, essv9945411, essv9945318, essv9945322, essv9945299, essv9945337, essv9945348, essv9945394, essv9945402, essv9945404, essv9945335, essv9945263, essv9945265, essv9945254, essv9945317, essv9945285, essv9945378, essv9945407, essv9945234, essv9945302, essv9945297, essv9945280, essv9945259, essv9945344, essv9945406
SamplesHG02580, HG03135, HG03968, NA19248, NA19913, HG02107, HG02854, HG01359, HG02621, HG03064, HG01612, HG03479, NA19222, NA18523, HG03563, HG00112, HG03437, HG00245, HG02284, HG03410, HG03693, HG03129, HG03304, HG03086, HG04096, HG03247, NA20294, HG02450, NA20296, NA18516, HG03265, HG03469, HG02722, HG02733, NA19449, HG01491, HG00148, HG02010, HG02944, HG03048, HG01704, HG03432, HG03458, NA19210, NA21135, HG02471, HG03099, HG02231, HG03294, HG02660, HG00111, HG01344, HG02817, HG04001, HG00280, HG01101, NA19682, HG03485, HG03696, HG04020, HG03039, HG04140, NA20853, HG04106, HG03457, NA19037, HG01133, HG03803, HG02053, HG01148, NA19428, NA18912, HG04210, NA19239, HG03451, HG03202, HG01495, HG01272, NA20754, NA19096, HG02557, HG02667, HG03007, HG02763, HG01684, HG02851, HG03130, HG03100, HG01527, HG01879, HG04099, HG04063, HG02595, HG04185, NA19316, NA19190, NA19377, NA19153, HG01097, HG02442, HG02878, NA19172, HG04025, HG02054, HG03391, HG00268, HG03397, NA20767, HG01914, NA18510, NA18502, HG02439, HG02623, HG02807, NA19098, HG01281, HG02501, HG02558, HG03097, HG02938, HG01889, HG03096, NA20797, HG03433, HG01070, HG01447, NA19707, HG02052, NA19711, HG01531, HG02582, HG03385, HG01779, HG02309, HG03108, HG01697, HG03363, NA10851, HG01757, HG04033, NA18909, NA20357, NA20911, HG01405, NA19201, NA20827, NA19403, HG03866, HG02629, NA21109, HG02953, HG02628, NA20287, HG03815, HG02481, HG03476, HG02837, HG03074, HG00235, HG03259, HG02678, NA19655, NA20869, HG01058, HG01912, HG04177, HG02445, HG02642, HG02728, HG03372, HG03117, NA19350, HG02555, HG03517, HG03720, NA21091, HG01890, HG02860, NA19456, NA19121, HG04107
Known GenesFGGY
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586190
Frequency
Sample Size2504
Observed Gain0
Observed Loss181
Observed Complex0
Frequencyn/a


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