A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658882



Internal ID9924987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:51151105..51156011hg38UCSC Ensembl
Outerchr16:51150734..51156581hg38UCSC Ensembl
Innerchr16:51185016..51189922hg19UCSC Ensembl
Outerchr16:51184645..51190492hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg385848
hg195848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6443606, essv5785505, essv6318110, essv6021933, essv6478839, essv5875378, essv5963068, essv6325085, essv6207369, essv6071017, essv5416678, essv6527884, essv6214125, essv5906603, essv6409713, essv6574613, essv6450177, essv5544147, essv5556038, essv6062213, essv5694758, essv5655729, essv5732642, essv6387472, essv6481645, essv6416201, essv5634636, essv5671528, essv5751656, essv6210941, essv5566669, essv6256606, essv5639969, essv6443897, essv6317715, essv5988382, essv6355470, essv6059482, essv6456479, essv6382877, essv5570022, essv5688603, essv5884510, essv5653502, essv6596070, essv5943762, essv6223683, essv6030830, essv6021578, essv6399864, essv5981702, essv5458647, essv5408136, essv6579961, essv5633599, essv6523838, essv5980003, essv5458254, essv6088576, essv6226433, essv6547385, essv6215791, essv5943398, essv6030018, essv6276910, essv6008540, essv5506253, essv5782867, essv6431402, essv6182516, essv6066333, essv6035231, essv5887000, essv5926799, essv6585487, essv5428725, essv6249762, essv6115950, essv5653401, essv6246978, essv5835784, essv5614520, essv6248015, essv6109374, essv5663552, essv6585731, essv5772994, essv5743667, essv5469557, essv6077729, essv5860053, essv6325196, essv6314660, essv5665149, essv6479434, essv5749796, essv6158601, essv6409450, essv5666291, essv6173591, essv6069937, essv5479017, essv5722383, essv5759716, essv6251105, essv6471610, essv6238167, essv5965067, essv6383835, essv6067214, essv5639758, essv5790435, essv5657021, essv5848101, essv5711307, essv6352800, essv5838001, essv6578645, essv6532894, essv6489876, essv6090993, essv6076133, essv6483273, essv5512323, essv6228736, essv6238446, essv5628000, essv6595080, essv6480368, essv6333965, essv5841597, essv5596325, essv5886844, essv5850107, essv5946609, essv5629936, essv6325197, essv6097616, essv6341699, essv6186467, essv5699180, essv6132589, essv6597785
SamplesHG00626, HG00403, NA19394, HG00650, HG00542, HG00442, HG00536, NA19397, HG00608, NA19466, HG00671, HG00524, NA19399, NA19332, NA19350, NA19359, HG00699, NA19393, NA19377, HG00449, HG00654, NA19443, HG00693, HG00663, NA19446, NA19381, HG00589, HG00501, NA19382, NA19315, NA19448, HG00702, HG00689, HG00448, HG00634, HG00610, NA19457, NA19313, NA19384, HG00537, HG00590, NA19404, HG00512, HG00683, NA19372, NA19371, HG00534, HG00422, NA19471, NA19317, HG00705, HG00427, NA19456, NA19445, HG00530, HG00419, NA19451, HG00464, HG00543, HG00629, NA19437, HG00443, HG00596, HG00557, HG00428, NA19462, NA19347, HG00653, HG00701, HG00657, NA19391, HG00475, NA19455, HG00436, HG00556, HG00584, HG00533, HG00583, HG00500, HG00619, HG00708, HG00692, HG00635, NA19461, HG00651, NA19449, HG00690, HG00404, HG00531, HG00479, HG00684, NA19453, HG00613, HG00525, NA19338, NA19452, HG00704, HG00463, NA19469, NA19436, NA19375, HG00476, NA19440, NA19390, HG00625, NA19434, NA19473, HG00580, NA19435, NA19444, HG00473, HG00607, NA19439, NA19470, NA19428, NA19311, NA19467, HG00662, HG00418, NA19398, HG00707, HG00672, HG00614, HG00513, NA19438, NA19472, HG00421, HG00656, NA19468, NA19474, HG00698, HG00595, HG00472, NA19430, NA19316, NA19312, HG00628, NA19463, NA19429, NA19346, HG00437, HG00581, NA19431
Known GenesSALL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658882
Frequency
Sample Size1151
Observed Gain0
Observed Loss143
Observed Complex0
Frequencyn/a


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