A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2745370

Internal ID9979654
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:919551..920433hg38UCSC Ensembl
Outerchr12:1028717..1029599hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6865252, essv6716744, essv6737857, essv6795984, essv6779414, essv6677768, essv6800170, essv6760935, essv6940283, essv6931788, essv6815427, essv6737887, essv6735140, essv6712948, essv6887975, essv6834841, essv6710765, essv6772008, essv6771420, essv6702406, essv6755501, essv6746804, essv6698720, essv6809335, essv6857128, essv6912546, essv6685041, essv6763355, essv6904875, essv6819645, essv6938596, essv6949044, essv6812187, essv6920111, essv6977093, essv6870687, essv6927887, essv6681528, essv6706173, essv6720636, essv6842388, essv6845914, essv6831271
SamplesSSM065, SSM022, SSM007, SSM013, SSM082, SSM006, SSM055, SSM033, SSM084, SSM061, SSM042, SSM040, SSM078, SSM043, SSM090, SSM072, SSM020, SSM071, SSM032, SSM039, SSM024, SSM067, SSM050, SSM077, SSM062, SSM085, SSM017, SSM011, SSM029, SSM003, SSM034, SSM087, SSM038, SSM019, SSM096, SSM044, SSM075, SSM015, SSM049, SSM008, SSM076, SSM058, SSM081
Known GenesRAD52
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2745370
Sample Size96
Observed Gain0
Observed Loss43
Observed Complex0

Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer