A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670716



Internal ID9590135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45158837..45161242hg38UCSC Ensembl
chr22:45554718..45557123hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg382406
hg192406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5876012, essv5688899, essv5967751, essv6499472, essv5418311, essv5734325, essv5657458, essv6211818, essv5937099, essv6309553, essv6369598, essv5814514, essv5753710, essv5688194, essv5900186, essv6004122, essv6132727, essv5623896, essv5991713, essv5808636, essv6312191, essv6013995, essv5785050, essv5457667, essv6035047, essv6057973, essv6546099, essv5872202, essv6473655, essv5948910, essv6245784, essv5560242, essv5623690, essv5924231, essv6073539, essv5767865, essv6170787, essv6576745, essv5623422, essv5858686, essv6265092, essv5661440, essv6199248, essv6118151, essv6306865, essv5889630, essv6445869, essv5773228, essv5815639, essv5534350, essv6488443, essv6462406, essv6347869, essv6041361, essv5742364, essv6406723, essv5679490, essv5760984, essv5997951, essv5773203, essv5843482, essv6037217, essv6072443, essv6237826, essv5733837, essv6371745, essv6033218, essv6012995, essv5909840, essv5397097, essv5997098, essv6483627, essv6508297, essv5763402, essv6310591, essv6140272, essv6560779, essv6530053, essv6073424, essv6387051, essv6587393, essv5969251, essv5558992, essv5741824, essv6466116, essv5926412, essv6378053, essv5971891, essv6375786, essv5921335, essv6095228, essv5752117, essv6562013, essv6348605, essv6435496, essv5878970, essv5810373, essv6422842, essv5768063, essv6080514, essv6548549, essv6569910, essv6398479, essv6055994, essv5637843, essv6251964, essv6292059, essv6386059, essv5615635, essv5810557, essv6319107, essv6209245, essv5662778, essv6205655, essv6224607, essv6577841, essv5466992, essv6359146, essv6415010, essv5818455, essv5764825, essv6094661, essv5600038, essv5572895, essv6552481, essv5619520, essv6094472, essv6430254, essv5882545, essv6031097, essv6287532, essv5580713, essv5685047, essv5662517, essv5622256, essv6437836, essv5905249, essv6365463, essv6313470, essv5734558, essv5700416, essv5565322, essv5933416, essv6488308, essv6541468, essv6037967, essv6291317, essv6585058, essv6150473, essv6349858, essv6541898, essv6464707, essv6288041, essv5880907, essv5739070, essv6290920, essv5488491, essv5904114, essv5465990, essv5884661, essv5715218, essv5762458, essv6174721, essv5985658, essv6075778, essv6509943, essv5981582, essv5566890, essv6349290, essv6328712, essv6463621, essv6347379
SamplesHG00626, NA19394, NA19701, HG00650, HG00542, NA19058, HG00536, NA19397, NA19909, NA19466, NA19204, NA18861, NA18508, NA18565, NA18599, NA18603, NA19350, NA19359, NA18486, NA19819, NA18530, NA19443, NA19098, HG01051, NA19920, NA18510, NA19107, NA19374, NA18563, NA19373, NA19005, HG01366, HG01070, NA19319, NA18489, NA19728, NA19448, HG01488, HG00689, NA18567, NA18619, NA19916, NA18558, NA18960, NA18942, NA18618, HG00610, NA18916, NA19197, NA19313, NA19054, NA19904, NA19384, NA18611, HG01067, NA20278, NA19383, NA18977, NA18868, NA19371, NA19238, NA18560, NA19075, NA19471, NA19317, HG00705, NA19087, NA19901, NA19189, NA18990, NA18557, NA20342, NA19456, NA19445, NA19451, NA19007, NA18951, NA19247, HG00629, NA18538, HG01384, NA19462, NA19347, HG00577, NA19391, NA19455, NA19236, HG00584, HG00533, HG00583, NA18579, NA18910, NA19064, NA18548, HG01047, NA18573, NA19114, HG00651, HG00690, HG00404, NA18499, NA18856, NA18912, NA18532, HG01101, NA18853, NA18553, NA19338, NA19257, NA19009, NA18555, NA19452, NA18963, NA19318, NA19160, NA18536, NA18858, NA18541, NA19012, NA18608, NA19375, NA19440, NA19108, NA18952, NA19256, NA19147, NA18517, HG00625, NA19712, NA19749, NA18628, NA18950, HG00580, NA19435, NA19380, NA19439, NA19428, NA19324, NA19311, NA19467, NA20281, HG00662, NA18610, NA20341, NA19818, NA19376, NA19398, NA19078, NA18501, HG00672, HG00513, NA20348, NA19248, NA19438, NA19060, NA20334, NA19713, NA18636, NA19102, NA19711, NA19213, NA18505, NA18488, HG00628, NA19463, NA18623, NA18511, NA18522, NA19065, NA19429, NA19431, NA18620
Known GenesLOC100506714
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670716
Frequency
Sample Size1151
Observed Gain0
Observed Loss172
Observed Complex0
Frequencyn/a


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