A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671564



Internal ID9937669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:44441220..44446676hg38UCSC Ensembl
OuterchrX:44440799..44447246hg38UCSC Ensembl
InnerchrX:44300466..44305922hg19UCSC Ensembl
OuterchrX:44300045..44306492hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg386448
hg196448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1398e199
Supporting Variantsessv5520657, essv6434836, essv5978610, essv5783655, essv5537722, essv6298426, essv5507824, essv5433316, essv6246713, essv5960406, essv5745878, essv6260356, essv6238903, essv5844399, essv6313436, essv5897543, essv5607637, essv6458008, essv5883997, essv5878881, essv6431152, essv6476584, essv6443494, essv5613831, essv6358176, essv5646004, essv5858601, essv5777918, essv6199914, essv6217447, essv6106657, essv6107427, essv5882769, essv5404732, essv6446973, essv6507599, essv6402001, essv6240933, essv6545567, essv6396335, essv6374133, essv6083121, essv6069070, essv5697225, essv6065957, essv6597598, essv5626263, essv5600567, essv5433238, essv5745367, essv6206206, essv5608635, essv6519403, essv5775121, essv6422110, essv5695373, essv5697706, essv5461135, essv5820236, essv6449171, essv5941570, essv5929095, essv5983883, essv6006096, essv6444482, essv5729034, essv5993604, essv5835856, essv5603334, essv5652919, essv6258815, essv5967055, essv5437733, essv6376382, essv6001969, essv5925325, essv6440807, essv6385842, essv6167695, essv6045849, essv5612207, essv6178208, essv5738794, essv6411979, essv5902335, essv5892637, essv6192091, essv6587074, essv5877225, essv5410672, essv6507198, essv6376310, essv6307740, essv6000203, essv6407888, essv6385262, essv6249730, essv5716072, essv6000180, essv6449725, essv6362226, essv6034695, essv6036720, essv6222583, essv6586277, essv6468609, essv5435951, essv5619343, essv5893437, essv5419113, essv5593344, essv5447461, essv5958538, essv5689932, essv6283701, essv5433802, essv6464173, essv6589956, essv6500289, essv6079232, essv5879902, essv6248520, essv5415069, essv6531635, essv5695230, essv6103633, essv5525352, essv6424499, essv6520587, essv5932419, essv6211226, essv6278987, essv5782327, essv5809886, essv5678269, essv5673194, essv5983500, essv5944581, essv5440649, essv6015261, essv5416902, essv5831146, essv6470800, essv6170197, essv5941259, essv6544545, essv5846251, essv5678963, essv5967411, essv6102920, essv5468538, essv6447848, essv6100732, essv5468863, essv6349806, essv5602239, essv5763475, essv6572591, essv6230415, essv6163112, essv6281781, essv5742975, essv6504825, essv5562540, essv5630817, essv5403891, essv6319361, essv6035295, essv6307043, essv5478545, essv6346164, essv5732519, essv5574547, essv5578666, essv6248326, essv5987565
SamplesNA19394, NA19701, NA19700, HG01356, NA19703, NA19397, HG01462, NA19909, NA19466, HG01359, NA19399, NA19914, NA19332, HG01389, HG01374, NA19350, NA19359, HG01465, NA20294, NA19355, NA19819, NA19393, HG01456, NA20332, NA20346, HG01461, NA19443, NA20356, NA19920, HG01140, NA19446, NA19374, HG01250, NA19396, NA19381, NA19373, HG01350, HG01366, NA19319, NA19382, HG01351, NA19448, HG01488, NA20317, NA19916, HG01492, HG01354, NA19457, NA19313, HG01365, NA20287, NA20336, NA19904, NA19384, NA20291, NA19404, HG01134, HG01455, NA20278, NA19383, HG01495, NA19917, NA20340, NA19372, NA19371, NA19385, NA19471, NA19317, HG01440, NA19901, NA20342, NA19456, NA19445, NA20127, NA19985, HG01550, NA19921, NA19451, HG01124, HG01353, HG01136, NA19908, NA19437, HG01360, NA19707, HG01384, NA19403, NA19462, NA19347, NA19391, NA19327, NA19455, NA20314, NA19982, HG01498, NA20126, HG01149, HG01390, NA19461, NA20299, NA19449, HG01383, NA19453, HG01497, NA20282, NA19338, NA19452, NA19469, NA19318, NA19395, NA19625, NA19436, NA20296, HG01148, NA19401, NA19375, NA19440, NA19390, NA19834, NA19321, NA20276, NA19712, NA19434, NA19473, HG01551, HG01253, NA19435, NA19444, NA19331, NA19380, HG01357, NA19835, NA19334, HG01494, NA19439, NA19470, NA19428, NA19324, NA19311, HG01113, NA19467, HG01137, NA20281, NA19360, HG01489, HG01342, NA20341, NA19818, NA19376, NA19398, NA19328, NA20348, HG01491, NA19438, NA19472, NA20334, NA19468, NA19713, NA19474, HG01254, NA20289, NA19711, NA19900, HG01251, HG01377, NA19430, HG01378, NA19316, NA19312, HG01125, NA19463, HG01112, NA19429, NA19346, HG01437, NA19431
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671564
Frequency
Sample Size1151
Observed Gain0
Observed Loss176
Observed Complex0
Frequencyn/a


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