A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669396



Internal ID9588815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17877155..17877496hg38UCSC Ensembl
Outerchr22:17877118..17877546hg38UCSC Ensembl
Innerchr22:18359921..18360262hg19UCSC Ensembl
Outerchr22:18359884..18360312hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38429
hg19429
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv816e199
Supporting Variantsessv5927457, essv6275655, essv6004289, essv5550124, essv5452825, essv6122790, essv6259165, essv6489772, essv5761212, essv6095723, essv6517743, essv6385578, essv6182311, essv6260147, essv6097297, essv6343715, essv5941650, essv6591482, essv6590956, essv5535416, essv5399285, essv6560222, essv6205537, essv5756806, essv6260973, essv6002464, essv5903520, essv5987305, essv5684073, essv5526135, essv6399870, essv5699360, essv6263891, essv5880394, essv6033718, essv5422822, essv6032857, essv6233576, essv5579385, essv6353967, essv6115622, essv6260624, essv5703717, essv6131898, essv6221487, essv5433555, essv5822167, essv6510269, essv6550830, essv5805564, essv5956583, essv5540023, essv6580717, essv5481922, essv5870449, essv6343616, essv5529609, essv6324509, essv6157592, essv6581191, essv6403734, essv6494711, essv6344607, essv6113378, essv5507074, essv6135392, essv6517772, essv6466333, essv5445743, essv6341583, essv5636988, essv5590451, essv5958454, essv6492360, essv6191884, essv5736227, essv6165378, essv5420438, essv5671519, essv6017501, essv5860934, essv5690898, essv6507403, essv5818918, essv5623226, essv5770248, essv6434372, essv6421528, essv6024730, essv5452466, essv5444212, essv6107488, essv6346527, essv6197341, essv6436756, essv5648030, essv5588001, essv6087958, essv5621997, essv5941631, essv5562987, essv6081101, essv6330329, essv5459078, essv5579622, essv5557896, essv6262130, essv5699332, essv6021782, essv5961737, essv5882539, essv5545914, essv5778056, essv6085629, essv5966055, essv6307487, essv6043289, essv5859415, essv6265954, essv5916926, essv6068316, essv5678581
SamplesHG00650, HG01173, NA19700, HG01521, HG00536, NA19397, NA19664, HG00524, HG01079, NA19704, NA18599, HG01374, HG01066, HG00315, HG00103, NA19819, NA12058, HG00449, NA19920, HG00693, HG00327, HG00663, NA19374, HG00641, HG01350, HG00589, HG00251, NA19382, HG00702, NA18923, NA18619, HG01492, NA11918, HG01354, NA19457, HG01083, NA18498, HG00537, HG00590, HG00158, NA20541, NA18611, NA19404, HG00512, HG01067, HG01170, HG00325, NA19917, HG01072, NA18560, HG01440, HG01048, HG01133, NA19445, HG00464, HG00108, NA19007, HG01353, HG00188, HG00149, NA20535, NA19657, NA19707, HG00328, NA19455, HG00436, HG00320, HG00584, HG00500, NA18579, NA18910, NA18572, HG00708, HG00692, HG00740, HG01047, HG01073, HG00651, NA20299, HG00250, NA18499, HG00684, NA19750, HG01334, HG00276, HG00704, HG00463, HG00141, NA19318, NA18536, NA19625, HG01107, NA18546, HG00258, NA18632, HG00476, HG00336, NA12272, NA18941, HG01375, HG00256, HG01489, HG00620, HG00339, NA19818, NA19328, HG00614, NA20348, HG00259, HG01055, NA20786, NA19102, NA19770, HG00698, NA19213, NA20528, HG01125, HG00628, NA19463, NA18623, NA07000, NA18549
Known GenesMICAL3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669396
Frequency
Sample Size1151
Observed Gain0
Observed Loss122
Observed Complex0
Frequencyn/a


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