A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2724119

Internal ID9958420
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:28781325..28781795hg38UCSC Ensembl
Outerchr22:29177313..29177783hg19UCSC Ensembl
Allele length
AssemblyAllele length
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
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2724119
Sample Size96
Observed Gain0
Observed Loss48
Observed Complex0

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