A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585266



Internal ID6972791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13836597..13840507hg38UCSC Ensembl
Innerchr1:13836598..13840506hg38UCSC Ensembl
Outerchr1:13836596..13840508hg38UCSC Ensembl
chr1:14163092..14167002hg19UCSC Ensembl
Innerchr1:14163093..14167001hg19UCSC Ensembl
Outerchr1:14163091..14167003hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg383911
hg193911
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9860443, essv9860406, essv9860368, essv9860357, essv9860506, essv9860437, essv9860412, essv9860358, essv9860381, essv9860371, essv9860430, essv9860453, essv9860365, essv9860450, essv9860434, essv9860455, essv9860354, essv9860391, essv9860462, essv9860447, essv9860388, essv9860378, essv9860425, essv9860404, essv9860467, essv9860373, essv9860490, essv9860493, essv9860473, essv9860483, essv9860424, essv9860422, essv9860451, essv9860403, essv9860494, essv9860400, essv9860374, essv9860419, essv9860449, essv9860356, essv9860466, essv9860401, essv9860423, essv9860421, essv9860487, essv9860446, essv9860420, essv9860383, essv9860485, essv9860399, essv9860465, essv9860496, essv9860458, essv9860416, essv9860360, essv9860489, essv9860361, essv9860503, essv9860463, essv9860407, essv9860481, essv9860457, essv9860441, essv9860396, essv9860500, essv9860386, essv9860417, essv9860488, essv9860438, essv9860397, essv9860445, essv9860456, essv9860352, essv9860387, essv9860384, essv9860353, essv9860498, essv9860398, essv9860504, essv9860482, essv9860372, essv9860477, essv9860415, essv9860442, essv9860491, essv9860468, essv9860390, essv9860362, essv9860472, essv9860408, essv9860507, essv9860402, essv9860385, essv9860436, essv9860370, essv9860364, essv9860474, essv9860351, essv9860363, essv9860413, essv9860505, essv9860478, essv9860480, essv9860418, essv9860366, essv9860382, essv9860460, essv9860444, essv9860431, essv9860426, essv9860359, essv9860452, essv9860495, essv9860479, essv9860501, essv9860355, essv9860469, essv9860414, essv9860448, essv9860508, essv9860476, essv9860475, essv9860376, essv9860435, essv9860379, essv9860377, essv9860389, essv9860367, essv9860497, essv9860350, essv9860471, essv9860410, essv9860502, essv9860492, essv9860380, essv9860433, essv9860470, essv9860392, essv9860409, essv9860429, essv9860440, essv9860484, essv9860349, essv9860486, essv9860461, essv9860459, essv9860411, essv9860454, essv9860375, essv9860499, essv9860394, essv9860405, essv9860395, essv9860393, essv9860464, essv9860432, essv9860427, essv9860369, essv9860439, essv9860428
SamplesHG03514, NA19394, HG02614, HG02574, HG01413, HG02496, NA19703, HG01610, HG03052, HG03175, NA19378, HG02433, HG02337, HG01188, NA18881, HG03300, HG03449, HG02852, HG02891, HG03130, NA19092, NA18486, HG02804, HG02323, HG03280, HG03518, HG03515, HG03297, HG03139, NA19443, HG02895, NA18510, NA19107, NA19374, HG03133, HG03464, NA19171, HG03436, HG03385, HG03168, HG03499, HG03091, HG02595, HG03485, HG02620, NA19916, NA19131, NA19023, HG03578, NA20287, HG03040, HG02111, NA19130, HG03079, HG02562, HG02143, NA19383, HG03556, HG02634, NA19137, HG02885, HG03195, NA19036, NA20412, HG02502, HG03225, HG02427, HG02545, NA19456, HG03583, HG03369, HG01524, HG02716, HG03343, HG02820, HG03054, NA19437, NA19403, NA19347, HG03291, HG02511, NA19391, HG02322, NA19982, HG02144, NA20126, NA18871, HG02968, HG02757, HG02555, NA18907, HG03311, HG03472, HG03301, NA19449, HG03136, HG02817, HG01197, HG03388, HG03078, HG03446, HG03024, NA19099, NA19257, HG03046, NA19452, NA19225, NA19318, NA19095, NA18858, HG02568, NA19035, NA19308, NA19440, NA19309, HG02667, NA19390, NA18909, NA19147, NA18517, HG03437, NA19712, NA19473, HG01894, HG01551, HG03458, HG03469, NA20281, HG03084, NA20357, NA18501, HG01912, HG03097, HG01028, HG03025, HG02646, HG02053, NA19093, HG03060, NA20289, HG03410, HG02013, HG02051, HG01914, HG01883, NA19121, HG03445, HG02947, NA18505, NA19146, NA19316, HG03376, NA18511, HG01886, HG02808, HG02629, HG03129, HG03439, NA19431, HG03265
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585266
Frequency
Sample Size2504
Observed Gain0
Observed Loss160
Observed Complex0
Frequencyn/a


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