A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667558



Internal ID9586977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:60334605..60336561hg38UCSC Ensembl
Outerchr17:60334034..60336931hg38UCSC Ensembl
Innerchr17:58411966..58413922hg19UCSC Ensembl
Outerchr17:58411395..58414292hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg382898
hg192898
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5796538, essv6429357, essv5628786, essv5945336, essv5889054, essv5775214, essv6428610, essv6134873, essv6377987, essv5432156, essv5748842, essv5532456, essv6597113, essv5932289, essv6156899, essv6124234, essv6454016, essv5822597, essv6507708, essv5995249, essv5824846, essv5662451, essv6091044, essv6218493, essv5667972, essv6512613, essv5711221, essv6361283, essv6125884, essv5682202, essv5732855, essv6243856, essv5468113, essv6445569, essv6333943, essv5861569, essv6420889, essv6508157, essv6438369, essv5614515, essv6421531, essv5638928, essv6021220, essv5542625, essv6358050, essv5734156, essv6451502, essv6286702, essv5481536, essv6398980, essv6307940, essv6594203, essv6125991, essv6551069, essv6565476, essv5632405, essv5900891, essv5997509, essv6012443, essv5543220, essv6310449, essv6133134, essv5711006, essv5806714, essv5737701, essv5741401, essv6232654, essv6415495, essv6154270, essv6464737, essv6140273, essv6579929, essv6378662, essv5925834, essv5829499, essv5983485, essv5786183, essv5756562, essv5779588, essv5827240, essv6231921, essv6449457, essv6467856, essv5965739, essv6535739, essv5642501, essv5505289, essv6034939, essv6479411, essv5523585, essv6524877, essv6244924, essv6580356, essv6123607, essv6288169, essv6484214, essv6122412, essv5813423, essv6243580, essv5860386, essv5683548, essv6459094, essv5754744, essv6224050, essv5650510, essv6468199, essv6182132, essv5542403, essv6329174, essv5597275, essv5474610, essv6547406, essv5832951, essv6244421, essv5815846, essv5904628, essv5767775, essv5530607, essv5700327, essv5463322, essv6550017, essv5928176, essv5910276, essv6469421, essv5443244, essv5679081, essv5595710, essv5609505, essv5789684, essv5702986, essv5553638, essv6128606, essv5695710, essv5581268, essv5687205, essv6242889, essv5802124, essv5667419, essv5594932, essv5956075, essv6272679, essv5505153, essv6036998, essv6196918, essv6501070, essv6081285, essv6179710, essv6575111, essv6586411, essv5767740, essv5428913, essv5828151, essv6129527, essv6108240, essv5771564, essv6304721, essv6218053, essv6556442, essv5583745, essv6437491, essv6544302, essv6207849, essv6449432
SamplesNA18502, NA19701, HG01441, NA18924, HG01462, NA19909, NA19466, NA19204, NA19332, NA19704, NA18507, NA18917, NA19359, NA18486, HG01465, NA20294, NA19355, NA19819, NA19393, NA18504, NA19377, NA20346, NA19443, NA19098, NA18870, NA18510, HG01140, NA19107, NA19374, NA19396, NA19381, NA19373, NA19379, NA18519, NA19319, NA19315, NA18489, NA19448, HG01488, NA19119, NA18923, NA20317, NA19131, NA18916, NA19197, NA19457, NA19313, NA18498, HG01365, NA20291, NA19130, HG01134, NA18874, NA19917, NA20340, NA19371, NA19235, NA19207, NA19471, NA19317, NA19456, NA19445, NA20127, NA18867, HG01550, NA19921, NA19451, NA19908, NA19247, NA19437, NA18934, NA19403, NA19462, NA19347, NA19391, NA19327, NA19455, NA18516, NA18910, NA18871, HG01149, NA20344, NA18907, HG01390, NA19461, NA19114, NA20299, NA19449, NA18499, NA18856, HG01383, NA19453, NA18912, NA18853, NA20282, NA19099, NA19338, NA19257, NA19225, NA18523, NA19469, NA19160, NA19625, NA18858, NA19436, NA19401, NA19375, NA19440, NA19390, NA18909, NA19834, NA19321, NA19256, NA18517, NA20276, NA19712, NA19434, NA19473, HG01551, HG01253, NA19435, NA19444, NA19331, NA19144, HG01375, NA19835, NA19334, NA19439, NA19470, NA19428, NA19311, HG01113, NA19467, NA19360, NA20341, NA19818, NA19376, NA19328, NA18501, NA20348, NA19438, NA19472, NA20334, NA19468, NA19713, NA19093, NA20289, NA19102, NA19116, NA19213, NA19900, NA19430, NA18505, NA19129, NA19316, NA19312, NA20322, NA19463, NA18522, NA19429, NA18487, NA19153, NA19431
Known GenesUSP32
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667558
Frequency
Sample Size1151
Observed Gain0
Observed Loss163
Observed Complex0
Frequencyn/a


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