A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724119



Internal ID9958420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:28781325..28781795hg38UCSC Ensembl
Outerchr22:29177313..29177783hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38471
hg19471
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6776756, essv6877539, essv6784753, essv6902336, essv6846827, essv6928890, essv6937447, essv6696806, essv6820990, essv6921505, essv6815488, essv6790265, essv6852936, essv6668797, essv6913784, essv6699464, essv6905935, essv6769350, essv6766423, essv6773239, essv6758935, essv6738695, essv6744806, essv6858911, essv6717865, essv6888864, essv6874561, essv6901463, essv6780631, essv6753381, essv6761739, essv6801433, essv6764079, essv6807229, essv6750472, essv6733297, essv6735881, essv6885841, essv6917231, essv6666632, essv6948584, essv6915485, essv6741989, essv6950314, essv6842586, essv6667788, essv6747650, essv6941547
SamplesSSM010, SSM065, SSM022, SSM092, SSM013, SSM053, SSM086, SSM006, SSM055, SSM091, SSM061, SSM078, SSM064, SSM072, SSM016, SSM057, SSM001, SSM024, SSM067, SSM050, SSM062, SSM012, SSM100, SSM056, SSM085, SSM017, SSM009, SSM066, SSM029, SSM003, SSM095, SSM030, SSM047, SSM021, SSM002, SSM037, SSM063, SSM087, SSM038, SSM019, SSM096, SSM052, SSM068, SSM074, SSM004, SSM015, SSM049, SSM059
Known GenesCCDC117
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)esv2724119
Frequency
Sample Size96
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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