A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724945



Internal ID9959247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:13931758..14820330hg38UCSC Ensembl
Outerchr3:13973255..14861837hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38888573
hg19888583
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6921206, essv6693360, essv6777452, essv6883630, essv6789700, essv6766916, essv6745318, essv6899024, essv6722494, essv6889467, essv6962401, essv6889466, essv6955647, essv6788888, essv6926125, essv6689727, essv6739285, essv6922285, essv6951098, essv6669811, essv6875104, essv6880795, essv6875105, essv6848420, essv6878032, essv6759437, essv6886356, essv6722710, essv6938194, essv6881309, essv6840483, essv6869104, essv6833059, essv6759435, essv6693359, essv6968515, essv6973347, essv6736383, essv6889468, essv6733822, essv6726356, essv6759436, essv6798010, essv6954439, essv6947022, essv6764511, essv6968514, essv6742534, essv6825549, essv6955648, essv6829481, essv6892778, essv6817193, essv6766915, essv6878033, essv6847850, essv6973346, essv6926126, essv6745317, essv6859823, essv6753912
SamplesSSM100, SSM036, SSM027, SSM024, SSM045, SSM046, SSM011, SSM064, SSM097, SSM009, SSM093, SSM050, SSM088, SSM058, SSM028, SSM092, SSM084, SSM090, SSM018, SSM061, SSM029, SSM096, SSM026, SSM019, SSM094, SSM003, SSM031, SSM067, SSM086, SSM081, SSM072, SSM082, SSM007, SSM078, SSM053, SSM080, SSM037, SSM022, SSM055, SSM070, SSM095, SSM025, SSM004, SSM052, SSM098, SSM049, SSM063, SSM012
Known GenesC3orf20, CCDC174, CHCHD4, FGD5, FGD5P1, GRIP2, LSM3, SLC6A6, TMEM43, TPRXL, XPC
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)esv2724945
Frequency
Sample Size96
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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