A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672867



Internal ID9592286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28901069..28901391hg38UCSC Ensembl
chr1:29227581..29227903hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6409465, essv5975363, essv5830510, essv5415766, essv6045680, essv5618748, essv5445145, essv5718745, essv5631079, essv5984519, essv5877077, essv5922160, essv6187150, essv5938813, essv5552749, essv6418293, essv6100058, essv6212039, essv5474064, essv6111797, essv6394874, essv6005302, essv5792199, essv6014491, essv5817506, essv5531363, essv6205028, essv5712179, essv6051765, essv6006292, essv5804329, essv5672666, essv5498562, essv5533653, essv6202845, essv6556148, essv5950842, essv6234105, essv6049761, essv5808973, essv6424967, essv6386247, essv6403531, essv5464878, essv6286029, essv5575812, essv6554226, essv5434848, essv5973830, essv5930904, essv6240431, essv5531163, essv5584720, essv6242722, essv5671612, essv5478397, essv6220207, essv5695657, essv5565404, essv6180839, essv6062309, essv6115245, essv5886200, essv6021947, essv5992880, essv6269717, essv5441281, essv6191546, essv5886548, essv6139128, essv6479288, essv6146383, essv6060390, essv5769253, essv5772342, essv6371757, essv6475220, essv6082205, essv6277831, essv5764386, essv6129564, essv6047438, essv5806516, essv6237082, essv5657689, essv5503366, essv5606895, essv5435499, essv6242358, essv6511944, essv6540514, essv6242058, essv6363802, essv5522869, essv5606181, essv5686508, essv6556286, essv6293536, essv6238343, essv6419718, essv6192948, essv6507222, essv5762975, essv5494808, essv5961717, essv5664325, essv6245436, essv5413675, essv6478113, essv5706623, essv6030678, essv5860896, essv6189990
SamplesHG00096, HG00650, HG00608, HG01188, HG01374, HG00318, HG00699, NA19355, HG00566, NA18530, HG00179, HG00654, NA18633, HG00693, HG00337, HG00663, NA19379, HG00589, NA18597, HG00689, HG00448, NA18618, HG00346, NA18571, HG00537, NA19130, NA19404, HG00277, HG01069, HG01080, HG00683, NA20819, NA18977, NA19719, HG00534, NA18617, NA19385, HG00705, NA19087, HG00427, HG00338, NA18557, NA18985, HG00419, HG00739, HG01124, HG00543, HG01183, HG00154, HG00176, NA19082, HG01187, HG01171, NA19670, HG00328, HG00428, HG00732, NA18956, NA20314, HG00533, HG00500, NA20506, NA20126, HG00619, HG00708, NA18566, HG01073, HG00651, HG00690, HG01197, HG00321, HG00157, NA18963, HG00704, NA18546, NA18542, NA20801, HG00265, NA18543, NA18559, HG00565, NA18628, NA18950, HG01551, HG00734, HG00638, HG00607, HG01113, HG00662, HG00418, HG01342, HG00620, HG00707, HG00672, HG00111, HG00513, HG00478, HG01254, NA19770, HG00698, HG00274, HG00472, NA07056, HG01378, HG01082, NA18624, NA18623, NA18549, NA18622, NA18562, HG00581, NA18577, NA18620
Known GenesEPB41
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672867
Frequency
Sample Size1151
Observed Gain0
Observed Loss113
Observed Complex0
Frequencyn/a


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