A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724180



Internal ID10307816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:35249108..35250126hg38UCSC Ensembl
Outerchr22:35645101..35646119hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg381019
hg191019
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6782932, essv6874572, essv6721807, essv6678964, essv6733306, essv6703652, essv6858921, essv6741997, essv6686005, essv6813037, essv6717968, essv6967631, essv6784759, essv6928892, essv6839780, essv6915540, essv6820996, essv6744813, essv6717898, essv6758940, essv6735884, essv6694732, essv6941555, essv6950322, essv6921512, essv6750478, essv6773246, essv6892174, essv6776759, essv6769352, essv6937453, essv6753385, essv6961183, essv6842675, essv6815554, essv6846831, essv6905940, essv6756423, essv6666641, essv6710425, essv6898472, essv6747656, essv6901468, essv6790709, essv6852943, essv6780637, essv6835980, essv6766429, essv6885848, essv6699470, essv6913791, essv6729427, essv6948662, essv6877542, essv6925499, essv6909879, essv6696814, essv6880304, essv6843690, essv6807234, essv6875287, essv6946266, essv6674950, essv6761744, essv6810220, essv6725631, essv6824768, essv6692571, essv6972057, essv6788926, essv6895678, essv6871580, essv6764083
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM093, SSM074, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM062, SSM026, SSM017, SSM019, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM066, SSM006, SSM085, SSM068, SSM082, SSM015, SSM078, SSM053, SSM005, SSM037, SSM076, SSM022, SSM010, SSM091, SSM055, SSM095, SSM034, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM063
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2724180
Frequency
Sample Size96
Observed Gain0
Observed Loss73
Observed Complex0
Frequencyn/a


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