A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669574



Internal ID9935679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62229964..62230291hg38UCSC Ensembl
chr2:62457099..62457426hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5872967, essv6402966, essv6052579, essv5587201, essv5734006, essv5877805, essv6549254, essv5658675, essv6040408, essv6026862, essv5782345, essv6568445, essv5581197, essv6166360, essv5888131, essv6457879, essv6087714, essv5933942, essv5500256, essv5782903, essv5834422, essv5809702, essv6544754, essv6465948, essv6061788, essv5672733, essv5986554, essv6349021, essv6264521, essv6216193, essv5929691, essv5397501, essv5539580, essv6162196, essv6274086, essv6041957, essv5953713, essv5878561, essv5800756, essv6388403, essv5760653, essv5715680, essv6309921, essv6111168, essv6433926, essv5727583, essv6453944, essv6237612, essv5914400, essv5845950, essv5451341, essv6226866, essv5906648, essv6361581, essv6528246, essv5437522, essv6267274, essv6486120, essv5945190, essv5536953, essv6579153, essv6187336, essv5769052, essv6263813, essv5810454, essv5920582, essv6187236, essv5421528, essv5605275, essv6328457, essv5630020, essv6472386, essv6276505, essv6175036, essv5973234, essv6571564, essv5917793, essv5673773, essv6274308, essv5628594, essv6057750, essv6177601, essv5633937, essv5767067, essv5601406, essv6529258, essv5409441, essv6135910, essv5779973, essv5925644, essv6259158, essv6127594, essv6392636, essv5460463, essv6368383, essv6364508, essv5452186, essv5414624, essv6218709, essv6092559, essv6312106, essv5504200, essv5764586, essv6186000, essv6073443, essv5926891, essv6157708, essv6422672, essv5880736, essv5524076, essv6267381, essv6086302, essv6000798, essv6320487, essv6249976, essv5527273, essv5528067, essv6520963, essv5925868, essv5712815, essv5488103, essv5680114, essv6472793, essv5589285, essv6349069, essv6119642, essv5582819, essv6118086, essv5658942, essv5414659, essv5694502, essv6075262, essv6259776, essv6554614, essv6031753, essv5845205, essv6463683, essv5865570, essv6166295, essv6376275, essv6095586, essv6558157, essv6067657, essv5571451, essv6321595, essv5558194, essv5950336, essv6536128, essv5796177, essv6291124, essv6010886, essv5695542, essv6228752, essv6090763, essv5738338, essv6052968, essv5666025, essv6360778, essv6135577, essv5985530, essv6351361, essv6332802, essv5844914, essv5549529, essv5501119, essv6130989, essv5955639, essv6288568, essv6105735, essv5532382, essv6203950, essv6206697, essv6181463, essv5647339, essv5708340, essv5503606, essv5673859, essv6395039, essv5396591, essv6518691, essv6132239, essv5436957, essv5705540, essv5580144, essv5692668, essv6051945, essv6019719, essv5396023, essv6211399, essv6208628, essv5973957, essv6140416, essv5875542, essv5823612, essv5443394, essv5536741, essv6570293, essv5503160, essv5874218, essv5492984, essv6383877, essv5654625, essv5845364, essv5500855, essv5976217, essv5438993, essv6313052, essv5782860, essv5850096, essv6458473, essv6071946, essv6060755, essv5899506, essv6131034, essv6583336, essv6505396, essv5408266, essv6497679, essv5893792, essv5768403, essv6178725, essv5966107, essv5695852, essv5612789
SamplesNA19676, HG00096, NA20588, HG01060, NA11830, HG00592, NA12842, NA19703, NA19055, HG00536, HG01462, NA19909, HG00142, NA19664, HG00361, NA19066, HG01359, HG00524, HG01052, NA19332, NA18565, NA19704, NA12843, NA11933, HG00315, NA18999, NA12045, NA18486, NA20294, NA18625, HG00115, NA20346, HG00150, HG00654, NA19443, NA18526, NA18633, NA12750, NA19067, HG01140, HG00693, NA12413, HG00337, HG00663, NA19746, NA19396, HG00138, NA19005, NA18940, NA18550, NA18519, HG01366, HG01070, NA19728, NA18595, HG01177, HG01488, HG00689, HG00448, NA20586, NA18923, NA18635, NA18567, NA18619, NA18942, NA19062, NA19197, NA18582, NA19088, HG01083, HG01365, NA19782, HG00185, NA20336, NA19384, HG01110, NA18949, HG00158, NA20541, NA18611, NA12761, NA11930, HG00512, HG00281, NA20759, NA19720, NA20278, HG01170, NA18977, NA19719, NA12044, NA19731, NA19075, NA19385, HG00422, NA19087, HG01440, HG00182, NA19722, NA19002, NA19189, NA18990, NA20757, HG00323, NA18973, HG01550, HG00530, NA18638, HG01136, HG00149, NA18951, NA18605, NA18613, HG00629, HG00443, NA19070, HG00190, NA18933, HG00653, HG01095, NA20760, HG00475, HG00368, NA19717, NA19455, NA19663, HG00583, NA19788, NA19658, NA18910, HG01149, HG00239, HG00708, HG00692, HG00740, NA19654, NA18566, HG00651, NA20299, NA19774, HG00479, HG01197, HG00331, HG01383, HG01101, HG00613, NA20282, NA19099, NA19059, NA19761, NA18555, NA18963, HG00704, NA18536, HG01107, NA18945, NA18576, NA19685, NA19003, HG00258, NA19729, NA18632, HG00155, HG00254, NA19390, HG00285, HG00265, NA18559, HG00353, NA19072, NA18950, NA19732, NA18941, NA19240, NA19773, HG01174, HG00308, NA20792, HG00607, NA19428, NA19786, NA19467, HG00319, NA18943, HG01108, NA19085, HG01489, NA19759, NA18501, HG00707, HG00672, HG00614, HG00513, NA20348, HG00578, NA19472, NA19223, NA19779, HG00421, HG01055, NA18636, HG00186, NA19726, NA20758, NA19711, HG00252, HG01377, NA07056, NA18488, HG01111, HG01082, NA19316, HG00171, NA18623, NA19063, NA12154, NA19065, HG01112, NA18612, NA19074, HG01061, HG00553, NA18562, HG00581
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669574
Frequency
Sample Size1151
Observed Gain0
Observed Loss224
Observed Complex0
Frequencyn/a


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