A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2714098

Internal ID9948382
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:23899548..23899886hg38UCSC Ensembl
Outerchr16:23910869..23911207hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6768880, essv6924847, essv6728766, essv6776160, essv6932371, essv6975350, essv6692004, essv6709896, essv6690488, essv6788264, essv6945513, essv6909350, essv6699079, essv6867782, essv6949591, essv6732611, essv6857990, essv6779942, essv6835334, essv6900995, essv6882688, essv6741987, essv6665480, essv6815866, essv6721164, essv6871097, essv6820281, essv6862995, essv6800739, essv6870154, essv6928332, essv6824115, essv6713419, essv6831790, essv6784073, essv6792349, essv6685500, essv6940847, essv6960121, essv6812574, essv6678311, essv6846339, essv6851999, essv6828200, essv6879833, essv6891683, essv6806752, essv6942973, essv6702952, essv6717288, essv6895088, essv6673963, essv6688675, essv6888375, essv6706642, essv6809760
SamplesSSM022, SSM007, SSM082, SSM086, SSM036, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM072, SSM020, SSM032, SSM039, SSM024, SSM067, SSM094, SSM097, SSM041, SSM077, SSM005, SSM093, SSM100, SSM085, SSM011, SSM066, SSM029, SSM003, SSM047, SSM069, SSM034, SSM087, SSM038, SSM046, SSM019, SSM096, SSM023, SSM079, SSM068, SSM044, SSM074, SSM004, SSM075, SSM026, SSM014, SSM098, SSM018, SSM076, SSM081, SSM070, SSM080
Known GenesPRKCB
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2714098
Sample Size96
Observed Gain0
Observed Loss56
Observed Complex0

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