A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663079



Internal ID9582498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152354960..152355191hg38UCSC Ensembl
chr1:152327436..152327667hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38232
hg19232
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5990636, essv6499810, essv5913935, essv5875090, essv5557074, essv6473155, essv6460190, essv6310213, essv6182008, essv5511668, essv6410669, essv6285506, essv6046829, essv6215690, essv5974670, essv5791164, essv5756489, essv5641251, essv5620443, essv6223927, essv5431083, essv5780718, essv6312660, essv5664216, essv6579349, essv5558869, essv6222348, essv5991375, essv6541769, essv5636565, essv5522898, essv6350845, essv5941534, essv5698763, essv5594216, essv5416844, essv5758532, essv6255928, essv6174953, essv5690999, essv5509228, essv6440686, essv5787477, essv5731935, essv6571320, essv6480116, essv6448060, essv5647908, essv6333287, essv6256178, essv5614686, essv5847492, essv5417134, essv5496660, essv5589552, essv5859512, essv6343164, essv6228480, essv6571433, essv5624291, essv6136650, essv6445415, essv6376196, essv5806818, essv5758680, essv5871490, essv5794266, essv5718552, essv6294737, essv5503616, essv5500532, essv5807267, essv5611734, essv6259314, essv6438723, essv6231136, essv6239268, essv5523906, essv6405582, essv6105941, essv5531904, essv5714872, essv6180500, essv6529428, essv6074087, essv5717749, essv6122256, essv6059114, essv6362535, essv5664593, essv6194477, essv6087261, essv5561276, essv6413656, essv5510653, essv6053611, essv5728520, essv5562035, essv6055574, essv5768128, essv6331519, essv5935518, essv5560001, essv6206674, essv5406859, essv5745953, essv6081594, essv5917957, essv5760993, essv6115481, essv6262875, essv5607893, essv6328370, essv6305790, essv6249193, essv6053538, essv5913051, essv6196540, essv5994102, essv5560269, essv6390759, essv5991786, essv5456710, essv6384820, essv5866371, essv6339397, essv6335060, essv5691352
SamplesHG01441, HG01356, HG00536, HG01462, HG00671, HG01359, NA18561, HG01389, HG01374, HG00315, NA20802, NA18603, NA18596, NA18530, NA18959, NA18606, HG00177, NA20507, NA18633, NA18602, NA18627, NA18563, NA19746, HG01350, NA18940, HG01366, HG01070, HG00589, NA18597, NA19762, HG01351, NA18595, HG00689, NA20756, NA18567, NA18618, HG00610, HG00346, NA18571, HG01365, HG00334, NA19079, NA18949, NA11930, HG00281, NA20539, HG00683, HG00232, NA18560, HG00534, HG01048, NA18985, HG00419, HG00464, HG01124, NA19007, NA18614, HG00313, NA18605, NA18613, HG00629, NA19657, HG00443, NA19056, HG00596, HG00557, HG00653, NA18956, HG00657, HG00475, NA19663, HG00556, HG00320, HG00533, HG00583, NA18637, HG00500, HG00275, NA18572, NA18948, HG00619, HG00635, HG01102, NA18573, HG00651, NA18626, NA18856, HG00525, HG01497, NA19761, NA18555, HG00463, NA18536, HG01107, NA18608, NA19685, NA18542, HG00285, NA18543, NA20527, HG00473, HG01494, NA20544, NA19786, HG01137, HG01108, NA19360, HG00418, NA18610, NA06986, HG00707, HG00672, HG00421, NA18987, NA12749, HG00343, HG00274, NA20502, HG00472, HG01378, HG00628, HG00345, NA18623, NA18549, HG01437, HG00437, HG00581, NA18965
Known GenesFLG2, FLG-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663079
Frequency
Sample Size1151
Observed Gain0
Observed Loss128
Observed Complex0
Frequencyn/a


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