A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661542



Internal ID2894629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233722831..233725340hg38UCSC Ensembl
chr2:234631477..234633986hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg382510
hg192510
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6213751, essv5679389, essv6258711, essv5713732, essv5634216, essv6386014, essv6017947, essv5506870, essv6080449, essv5991189, essv5588969, essv5631097, essv5523891, essv6396836, essv6132475, essv6065581, essv5799885, essv6586200, essv5947275, essv5439858, essv6152541, essv6556695, essv5945012, essv6355581, essv5966002, essv6184419, essv5555460, essv6179801, essv6463514, essv6066675, essv6360708, essv6401611, essv5511250, essv5889055, essv5473712, essv6216759, essv5649695, essv6055304, essv6493388, essv6492199, essv6252313, essv5696514, essv6350884, essv6489217, essv5451992, essv5457345, essv6365640, essv6108687, essv6219926, essv6146431, essv5596805, essv5656866, essv6207014, essv5709747, essv6373678, essv5986493, essv6163075, essv5725564, essv5649251, essv6034292, essv5964634, essv6467940, essv5640615, essv5803814, essv5749758, essv6515310, essv6450822, essv6012916, essv5749405, essv5778044, essv5521920, essv6148166, essv5461645, essv6008440, essv6049719, essv5817989, essv5684085, essv5872013, essv5856532, essv5908838, essv6469728, essv5592805, essv5827214, essv6379019, essv5792502, essv6284905, essv5822113, essv6520030, essv6465699, essv6241690, essv5425429, essv5409606, essv6353020, essv5876924, essv5437986, essv5912474, essv5575818, essv5695697, essv5590837, essv6006433, essv5974687, essv6189979, essv5448931, essv5783869, essv6394210, essv6047305, essv6475711, essv6152668, essv5672213, essv5888616, essv5939017, essv6194911, essv5759811, essv5440430, essv6393510, essv6372580, essv6027018, essv5853754, essv5404957, essv6133868, essv6062451, essv6321691, essv6024621, essv6142644, essv5797156, essv6005622, essv6047598, essv6417580, essv6100655, essv6490031, essv6036049, essv5870884, essv5657061, essv6540699, essv5687865, essv6356235, essv6095203, essv5870587, essv5750675, essv5908730, essv5928219, essv5603074, essv5920863, essv6222932, essv5495145, essv5698311, essv5638689, essv6493385, essv6494964, essv6537629, essv5472996, essv6060049, essv6111169, essv5783628, essv6405310, essv6237954, essv6349003, essv5588672, essv5767445, essv5792836, essv5968662, essv5785817, essv6205904, essv5619844, essv5470515, essv6109663, essv5485091, essv6553955, essv5787156, essv5966730, essv6014026, essv5609492, essv5435579, essv6200732, essv6200521, essv6376733, essv6528500, essv6377528, essv6017376, essv5482960, essv6280926
SamplesHG00613, HG01441, NA12043, NA19152, NA12249, NA07347, HG00257, NA18595, NA18616, NA20809, NA18630, HG00418, NA20785, NA18561, NA18952, HG01083, NA20510, HG00274, HG00245, HG00464, HG00596, NA18526, HG00736, NA11918, NA19072, HG00707, NA18948, HG00463, NA18516, HG00577, NA18972, HG01488, NA12828, NA18517, HG00428, NA18947, NA19010, HG00542, NA18542, HG00270, NA19461, NA19144, HG00701, HG00698, NA20588, NA18963, HG00651, NA19257, NA19682, HG00146, NA18488, NA19474, NA20798, HG00319, HG00737, NA19084, HG00699, NA18943, NA19776, HG01521, HG00592, HG00635, NA19077, HG00543, HG00154, HG01107, NA18559, NA19914, NA20761, NA18912, NA20533, HG01384, NA18627, HG00593, HG00472, NA19390, HG00421, HG00583, NA18566, NA19068, NA18622, NA18960, NA18618, NA07357, HG00610, NA20801, NA20754, HG00628, NA18959, HG00533, HG00258, NA18637, NA19835, NA11995, HG00634, HG00637, NA18593, HG00403, NA19700, NA12751, NA19000, NA19213, NA19676, NA20769, HG01437, NA19080, NA19153, NA12892, NA18633, HG00653, NA12778, HG00629, NA18486, NA19102, NA19238, NA19005, NA18502, NA18558, HG00672, HG01069, NA18504, HG00249, HG00478, NA18564, NA18858, NA18961, HG01080, NA18613, HG00513, HG00524, HG00512, HG00525, NA19131, NA18974, NA19789, NA18543, HG00151, NA18987, NA20581, HG00427, HG00590, HG00595, NA18552, NA20534, NA18983, HG00443, NA18599, HG00611, HG00650, NA06984, NA18565, NA18631, HG00580, NA19719, NA19747, HG00448, NA18602, HG00654, HG00530, NA11830, NA19064, NA19225, NA11993, NA12399, HG00422, NA18610, NA20758, NA19171, HG00625, NA18549, HG00442, NA18981, NA18908, NA20804, NA06994, HG00476, HG00704, NA19385, NA19779, HG00531, NA18553
Known GenesUGT1A10, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661542
Frequency
Sample Size1151
Observed Gain0
Observed Loss181
Observed Complex0
Frequencyn/a


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