A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667229



Internal ID9586648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54052271..54057388hg38UCSC Ensembl
chr19:54555525..54560642hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg385118
hg195118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv663e199
Supporting Variantsessv6199253, essv5576862, essv6061891, essv5768433, essv5574346, essv5630488, essv5535264, essv6240555, essv6284350, essv6003981, essv5722972, essv6333494, essv5491222, essv5802805, essv5550202, essv5777663, essv5762510, essv5733417, essv6487612, essv6159298, essv5711788, essv5606674, essv6182944, essv5818021, essv6398229, essv6161236, essv5451853, essv6145598, essv5611060, essv5760631, essv6413266, essv6191272, essv6262897, essv5606073, essv5476630, essv6118932, essv6401130, essv5438733, essv5578804, essv5525041, essv6322752, essv6455102, essv6018489, essv5470251, essv6090587, essv5936202, essv6593706, essv5562745, essv6301673, essv5597416, essv5934341, essv5750841, essv5711002, essv5502218, essv6304765, essv5626385, essv6174139, essv5518112, essv6584906, essv5807439, essv5782396, essv6148191, essv6300692, essv5805405, essv5488489, essv6170423, essv6232355, essv5788877, essv5840872, essv5453455, essv6222496, essv5810791, essv5432603, essv6593916, essv6363285, essv6450347, essv5737711, essv6138697, essv5697423, essv5423725, essv5766825, essv6378247, essv6127812, essv5758030, essv6479062, essv6205448, essv5958667, essv6498633, essv6159876, essv5763074, essv6295619, essv6154940, essv6267474, essv6469592, essv5981275, essv6215513, essv6134776, essv5701092, essv5433604, essv6159140, essv6049428, essv5726288, essv6514475, essv5936459, essv6078913, essv6046622, essv5980367, essv6148593, essv5731509, essv6491284, essv5989548, essv5645878, essv6036726, essv5658262, essv6131790, essv6028124, essv5511122, essv6580967, essv6392185, essv5815291, essv5463913, essv5520351, essv6409115, essv5903298, essv5434637, essv6059460, essv5525162, essv5673461, essv5633609, essv6571627, essv6207296, essv6204152, essv6542923, essv5977027, essv5420620, essv6543047, essv5437503, essv5619314, essv5524115, essv6331313, essv5534477, essv5587529, essv5429525, essv5420003, essv5824739, essv5732530, essv5509387, essv6306665, essv5946654, essv5607436, essv6576968, essv5881303, essv5830708, essv6141660, essv5890044, essv6352575, essv6308045, essv5896544, essv5411817, essv5408520, essv6071676, essv5679559, essv5969154, essv6540842, essv5863420, essv5751805, essv5595460, essv6396188, essv5847585, essv6283081, essv5637815, essv6067505, essv6545595, essv6277111, essv5557150, essv6125008, essv5523061, essv5564812, essv5492305, essv5633290, essv6505250, essv5823862, essv6248978, essv6242880, essv6359612
SamplesHG00096, HG01060, HG00114, NA11830, NA19058, HG01356, HG00143, NA19703, HG00231, NA19397, HG01462, NA19664, NA19466, NA19066, NA19914, NA19332, NA19704, HG01188, HG01389, HG00315, HG00151, NA20802, NA12045, HG00318, NA19359, NA18486, HG01465, NA19355, NA19393, NA20805, NA12340, NA18616, NA12400, HG01051, HG01522, HG01140, NA12413, HG00327, NA07346, NA19374, HG00641, NA19373, HG01350, NA18940, HG01366, HG00251, NA18489, HG01167, NA19916, NA19062, NA19197, NA07347, NA19313, HG01365, NA19681, NA19904, NA19384, NA19079, HG00590, NA20541, NA19404, HG01134, HG00512, HG00277, HG01080, NA19383, HG00335, HG00148, HG00106, HG00325, NA19719, NA20340, NA11994, NA19385, HG00422, NA19722, NA19002, NA18990, HG00637, NA18557, HG01133, NA19445, NA18973, NA19921, HG00264, HG01124, NA20818, HG01353, HG00543, HG01136, HG00731, NA19657, HG01171, NA18934, HG00596, HG01384, HG00245, NA19347, HG00732, HG00653, NA20521, HG01095, NA20760, NA19455, NA19236, NA19982, HG00635, HG01047, HG00284, HG01073, HG00250, NA19449, NA19084, NA18626, HG00373, NA20581, HG00331, HG01383, NA19453, NA06989, HG01101, NA18553, NA19059, HG01334, NA19009, HG00276, HG00152, HG00146, HG00704, NA19625, NA19436, NA19375, HG00258, HG00124, NA19652, NA19440, HG00119, HG00285, HG00265, NA19712, NA19434, HG00580, HG00357, NA12272, HG00638, NA19444, NA19835, NA19334, HG00319, NA19083, HG01108, NA20797, NA12347, HG00513, HG00578, NA19248, HG01491, NA19438, HG00421, HG00329, NA18987, NA19716, NA19468, HG00267, HG00123, NA18873, NA19711, NA18983, HG00595, NA11892, HG01378, HG01082, HG00345, NA19065, HG01097, HG00554, NA19429, NA19346, NA19074, NA18622, NA18487, HG00553, NA18562, HG00581, HG00593
Known GenesVSTM1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667229
Frequency
Sample Size1151
Observed Gain0
Observed Loss185
Observed Complex0
Frequencyn/a


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