A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2724945

Internal ID9959247
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:13931758..14820330hg38UCSC Ensembl
Outerchr3:13973255..14861837hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6847850, essv6947022, essv6859823, essv6739285, essv6669811, essv6693359, essv6968514, essv6955648, essv6736383, essv6926126, essv6726356, essv6922285, essv6951098, essv6889467, essv6789700, essv6875104, essv6955647, essv6878032, essv6817193, essv6829481, essv6875105, essv6878033, essv6693360, essv6745317, essv6889466, essv6733822, essv6753912, essv6869104, essv6973346, essv6759437, essv6764511, essv6833059, essv6883630, essv6840483, essv6788888, essv6886356, essv6825549, essv6889468, essv6954439, essv6742534, essv6798010, essv6962401, essv6766915, essv6766916, essv6921206, essv6777452, essv6745318, essv6689727, essv6759436, essv6881309, essv6722494, essv6722710, essv6926125, essv6892778, essv6899024, essv6938194, essv6968515, essv6848420, essv6759435, essv6973347, essv6880795
SamplesSSM022, SSM007, SSM027, SSM092, SSM053, SSM082, SSM086, SSM036, SSM055, SSM084, SSM061, SSM078, SSM088, SSM090, SSM064, SSM031, SSM025, SSM072, SSM024, SSM045, SSM067, SSM094, SSM050, SSM097, SSM012, SSM093, SSM100, SSM009, SSM011, SSM028, SSM029, SSM003, SSM095, SSM037, SSM063, SSM046, SSM019, SSM096, SSM052, SSM004, SSM026, SSM049, SSM098, SSM018, SSM058, SSM081, SSM070, SSM080
Known GenesC3orf20, CCDC174, CHCHD4, FGD5, FGD5P1, GRIP2, LSM3, SLC6A6, TMEM43, TPRXL, XPC
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2724945
Sample Size96
Observed Gain0
Observed Loss48
Observed Complex0

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