A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663157



Internal ID9582576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:166988442..166994698hg38UCSC Ensembl
chr2:167844952..167851208hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg386257
hg196257
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6334917, essv6516006, essv6198632, essv5499839, essv5858185, essv5909426, essv6519017, essv6568563, essv6022527, essv6063227, essv5736867, essv5640195, essv5778705, essv5687755, essv6196351, essv5691225, essv5928367, essv6326226, essv5576614, essv6452062, essv5628349, essv5846652, essv5798728, essv5678638, essv5592768, essv5698368, essv6142073, essv6166505, essv6257990, essv6076468, essv5918452, essv5442957, essv5758447, essv6226217, essv5894693, essv6149872, essv5661867, essv6497042, essv6252986, essv5879394, essv6105917, essv5412075, essv6563653, essv6563383, essv5558603, essv6271462, essv5421182, essv6031364, essv5448191, essv6597383, essv6118961, essv5840386, essv5873152, essv5874164, essv6224589, essv6224422, essv5757573, essv6460392, essv6323241, essv5433584, essv6177695, essv5709125, essv6145956, essv5865258, essv6309717, essv5933952, essv5726050, essv5650301, essv5994682, essv6222772, essv6435478, essv5712173, essv5992790, essv5579900, essv6044266, essv5916943, essv5801512, essv5664154, essv6452929, essv6550670, essv6309499, essv5710630, essv5601378, essv6222489, essv5867091, essv5467365, essv5963648, essv5895540, essv6375480, essv5932888, essv5513898, essv5465582, essv6512721, essv5566479, essv5487476, essv6108458, essv5592814, essv5959845, essv5617599, essv6234251, essv6162129, essv5845245, essv6206190, essv6130800, essv5993981, essv5675891, essv6428874, essv5615815, essv5465310, essv6511893, essv6346475, essv5695352, essv5525971, essv5892029, essv6522015, essv6485758, essv6364333, essv5830048, essv6489729, essv6068124, essv5954508, essv5579313, essv6557618, essv6123252, essv5400748, essv5901274, essv6532989, essv5686114, essv6164161, essv6112004, essv5784354, essv6468450, essv5911620, essv5418274, essv6421256, essv6137890, essv5850643, essv5764548, essv6356746, essv6137003, essv5804753, essv5448677, essv5758550, essv5456955, essv6490278, essv6280097, essv6539287, essv6090819, essv5858058, essv5906628, essv5587128, essv5440780, essv6449357, essv6147329, essv5450515, essv6299625, essv5870124, essv5859145, essv6589734, essv6551066, essv5505645, essv6517072, essv5703694, essv5617301, essv6275358, essv6244892, essv5527845, essv6307018, essv6273104, essv6300716, essv6073135, essv5607237, essv6390977, essv6005783, essv5883178, essv5758401, essv6593292, essv6001407, essv6573324, essv6533863
SamplesHG00403, HG00542, NA19703, HG00536, NA19397, NA18924, HG00249, NA20508, HG00671, HG00559, HG00524, NA19914, NA18565, NA18980, NA18561, NA18507, NA11920, NA18599, HG00257, HG01374, NA20813, NA19350, NA20294, NA19355, NA18545, NA18959, HG00654, NA19098, NA18526, NA12155, NA07357, NA18627, HG00663, NA18967, NA07346, NA19068, NA18563, NA19171, NA19076, NA19005, NA19201, HG00501, NA20589, NA18595, HG00689, HG00448, NA19119, NA19131, NA18960, NA18942, NA18582, NA12287, NA19054, HG00369, NA18964, NA18949, NA19404, NA11930, HG00512, NA19383, HG00683, NA18977, NA19137, NA19372, HG00534, NA18617, NA19172, HG00705, NA12889, HG01440, NA19159, NA18990, NA18557, NA19456, NA18975, HG00178, NA18908, NA18973, NA18638, HG00464, HG00543, HG00133, HG00560, HG00629, HG00268, NA19082, NA19056, HG00596, NA12342, NA12003, HG00428, HG00653, NA18956, HG01095, HG00701, NA20314, NA18637, HG00500, NA18871, NA18976, NA18630, HG00708, NA19064, NA18573, HG00273, NA11919, HG00651, NA19084, HG00404, NA11894, HG00684, HG00613, HG00525, NA19338, NA19452, HG00704, NA18536, NA20542, NA18634, NA18593, NA18945, NA18541, NA19012, NA19436, NA12043, NA18953, HG00611, HG00124, NA20522, HG00254, NA19390, NA18535, NA18517, HG01551, NA19435, HG00278, NA12763, NA18615, NA18610, NA12347, HG00620, NA20341, NA19376, HG00707, HG00614, NA06994, NA18971, NA18631, HG00259, NA19438, NA18987, HG00656, NA20334, HG01055, NA19093, HG00698, HG00280, NA19116, NA18972, NA18552, NA18983, HG00595, NA18984, HG00472, NA19004, NA19316, HG00628, HG00171, NA18968, NA18624, NA07000, NA20585, NA18522, NA19065, NA19346, NA19074, HG00437, NA19153, NA18562, NA18577
Known GenesXIRP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663157
Frequency
Sample Size1151
Observed Gain0
Observed Loss180
Observed Complex0
Frequencyn/a


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