A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660296



Internal ID9579715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24289440..24289754hg38UCSC Ensembl
chr12:24442374..24442688hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5820866, essv6352043, essv6433573, essv6214867, essv5963276, essv6399400, essv5993723, essv5883358, essv6365661, essv6447597, essv6307023, essv5822961, essv6227698, essv6217673, essv6550251, essv5976152, essv6152990, essv6406667, essv6488258, essv6524649, essv6362763, essv6179019, essv6257098, essv5571936, essv6459951, essv6235281, essv6148202, essv6348604, essv6444629, essv5593181, essv6141990, essv6159963, essv5569941, essv5844034, essv5806938, essv6533591, essv5745388, essv6438434, essv5814438, essv5475551, essv5546835, essv6080408, essv6384787, essv6523535, essv5819063, essv5905277, essv6118638, essv5818800, essv6114702, essv6476992, essv5606818, essv6314891, essv6368486, essv6173268, essv6227720, essv6353962, essv6594488, essv5951698, essv6245052, essv6354155, essv5976430, essv6412167, essv6549083, essv5609213, essv5518777, essv5854652, essv5965875, essv5664625, essv5866835, essv5422490, essv5763396, essv6146776, essv6444030, essv5404066, essv6006688, essv5977361, essv5436773, essv6069781, essv5694604, essv5862953, essv6149070, essv6380522, essv5575833, essv5869407, essv5624739, essv6554512, essv5577950, essv6149737, essv6561216, essv5395944, essv6579237, essv6408795, essv5420148, essv5818086, essv5424927, essv5642992, essv5858358, essv5668919, essv5433403, essv5704922, essv6491995, essv6450953, essv5742647, essv5807427, essv6152431, essv6319039, essv6341887, essv6375352, essv6331775, essv6342184, essv6304234, essv5920306, essv6298826, essv6475372, essv5443318, essv5593103, essv5508626, essv6314347, essv6524360, essv6324160, essv6561635, essv5737548, essv5862706, essv6130969, essv5780717, essv6498828, essv5812224, essv5941859, essv5524232, essv6342569, essv5904249, essv6071206, essv6169025, essv6059034, essv5708169, essv6124362, essv5879956, essv6585247, essv5869318, essv6004859, essv6148666, essv6253566, essv5436199, essv6010617, essv6340668, essv6042649, essv5975570, essv6142656, essv6304060, essv6022788, essv6190375, essv5964922, essv6499593, essv6391551, essv5439529, essv5670554, essv5679711, essv5762505, essv6158649, essv6244469, essv6419970, essv6203011, essv5441794, essv6240071, essv6485382, essv5594944, essv5779835, essv6460965, essv5883159, essv6555692, essv5640398, essv5921374, essv5534177, essv6084590, essv5902135, essv5448405, essv5452977, essv6414516, essv6436418, essv6318425, essv6593766, essv5436327, essv5841499, essv6596556, essv5787368, essv5519917, essv5555750, essv5941009, essv6078363, essv5489681, essv6073038
SamplesNA20281, NA19137, NA19207, HG00309, NA19312, NA19152, HG00537, NA18861, HG00252, HG01440, NA07347, NA12750, NA18520, NA18530, NA18933, NA19404, NA18523, NA19437, NA18952, NA18975, NA19114, NA18874, HG01342, HG00369, NA19209, HG00731, NA18501, NA19401, NA19311, NA19469, NA20346, NA19455, NA06989, NA19435, NA18948, HG01197, NA19359, NA12813, HG00189, NA20808, HG01492, NA18953, NA18972, NA18517, HG00326, NA18573, NA19920, NA20778, NA18542, HG00139, NA19461, NA19144, NA19210, NA19379, HG00698, HG00581, HG01204, HG00651, HG01168, HG00578, NA19108, HG00331, NA19355, NA18505, NA12287, NA19467, NA18950, HG00635, NA18559, NA19062, HG00556, NA19428, NA11919, NA12763, NA18912, NA18967, NA19059, NA19390, NA18566, NA11994, NA19917, NA18536, NA19396, NA18956, NA19398, NA19440, NA19908, NA19066, NA18959, NA18609, NA18547, NA11831, NA18976, NA11894, HG01253, NA19457, HG00357, NA19700, NA12144, NA19316, NA20773, NA19055, NA19247, NA19360, NA19377, HG01111, NA19153, NA12716, NA19129, NA19189, NA19374, NA19703, NA20348, HG00732, NA18498, NA18923, NA18486, NA18968, NA19102, NA19238, NA20334, NA18510, NA18502, NA19119, NA19002, HG01073, NA19098, NA19901, NA18504, NA19704, NA18487, NA19347, NA19332, NA20815, NA18562, NA19131, NA19159, NA19328, HG01060, NA19382, NA18974, NA18985, NA19462, NA18945, HG00151, NA19138, NA20756, HG01095, NA18907, NA19201, NA19116, NA18989, NA18971, NA19434, NA19818, NA19099, NA19446, NA20317, NA11992, NA18944, NA19225, NA19399, NA19160, NA18571, HG01108, NA20758, NA19070, NA19171, NA19346, HG00275, HG00324, HG00625, NA18532, NA18853, NA19204, HG00183, HG00473, NA18981, NA18908, NA06994, HG01110, NA20502, HG00272, HG00345, NA19092, NA19468, NA19200, NA19385, NA19456, NA18519, NA19065
Known GenesSOX5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660296
Frequency
Sample Size1151
Observed Gain0
Observed Loss191
Observed Complex0
Frequencyn/a


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