A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672626



Internal ID9592045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:49960468..49962574hg38UCSC Ensembl
Outerchr22:49959997..49963044hg38UCSC Ensembl
Innerchr22:50354116..50356222hg19UCSC Ensembl
Outerchr22:50353645..50356692hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg383048
hg193048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5694273, essv5596624, essv5498151, essv5738696, essv5456155, essv5992807, essv5615312, essv6049548, essv5475978, essv6033670, essv6315205, essv6228769, essv6295875, essv6319426, essv5479484, essv6181869, essv5575800, essv5962629, essv6164329, essv6017434, essv6543879, essv5664852, essv5643666, essv6004227, essv6505767, essv6385922, essv5847444, essv6417289, essv6192964, essv6065937, essv5724279, essv6170337, essv5954050, essv5672703, essv5513840, essv6551133, essv6569961, essv6435709, essv6243768, essv5608300, essv5674948, essv6583996, essv6137669, essv5912766, essv6547241, essv6033882, essv6042347, essv6451954, essv5969572, essv6489487, essv5674755, essv5510348, essv6405257, essv5478980, essv5483917, essv5487275, essv5588800, essv6427623, essv5703444, essv6108988, essv5402665, essv5679277, essv6087945, essv5830081, essv6165699, essv6426011, essv6277375, essv6220263, essv6198687, essv5913925, essv5654698, essv5803884, essv5416224, essv5998117, essv5966702, essv5574327, essv6363506, essv6337059, essv5727915, essv6422420, essv6443991, essv6433035, essv5866848, essv6435194, essv6590992, essv5947585, essv5544921, essv5905323, essv5544465, essv6282851, essv5677949, essv5780149, essv6576482, essv5840052, essv6201258, essv5630216, essv5755813, essv5850807, essv5989116, essv5584975, essv5490711, essv6328095, essv5647343, essv5796706, essv5405802, essv5639845, essv6324596, essv5937213, essv5426751, essv5947092, essv6583882, essv6021845, essv6520688, essv5416694, essv5454442, essv6261120
SamplesHG00593, HG00626, HG00403, HG00650, HG00542, HG00442, HG00592, HG01356, HG00536, HG00608, HG00671, HG00524, HG01389, HG01374, HG00699, HG01456, HG00449, HG01461, HG00654, HG01140, HG00693, HG00663, HG01250, HG01350, HG01366, HG00589, HG00501, HG01351, HG00702, HG00689, HG00448, HG01492, HG00634, HG00610, HG01354, HG01365, HG00537, HG01134, HG00512, HG00683, HG00534, HG00422, HG00705, HG01440, HG00427, HG01550, HG00530, HG00419, HG00464, HG01353, HG00543, HG01136, HG00560, HG00629, HG00443, HG00596, HG01384, HG00428, HG00653, HG00577, HG00701, HG00657, HG00475, HG00436, HG00556, HG00584, HG00533, HG00583, HG01498, HG00500, HG01149, HG00619, HG00708, HG00692, HG01390, HG00651, HG00690, HG00404, HG00531, HG00479, HG00684, HG01383, HG00613, HG00525, HG00704, HG00463, HG01148, HG00476, HG00580, HG01551, HG01253, HG01357, HG01375, HG00473, HG01494, HG00607, HG00662, HG00418, HG01489, HG01342, HG00620, HG00707, HG00672, HG00513, HG00478, HG01491, HG00421, HG00656, HG00698, HG01251, HG00472, HG01378, HG00628, HG01437, HG00437, HG00581
Known GenesMIR6821, PIM3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672626
Frequency
Sample Size1151
Observed Gain0
Observed Loss116
Observed Complex0
Frequencyn/a


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