A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725162



Internal ID10308798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:38326410..38327384hg38UCSC Ensembl
Outerchr3:38367901..38368875hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38975
hg19975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6711119, essv6947050, essv6667160, essv6798032, essv6910600, essv6922310, essv6859852, essv6833079, essv6686588, essv6802016, essv6942436, essv6770082, essv6722843, essv6955695, essv6785589, essv6869117, essv6753927, essv6892797, essv6844337, essv6917986, essv6883646, essv6933880, essv6804835, essv6914434, essv6673110, essv6875117, essv6973393, essv6807805, essv6836693, essv6829502, essv6881531, essv6669849, essv6693380, essv6679696, essv6954640, essv6848632, essv6789077, essv6697378, essv6847892, essv6766936, essv6700207, essv6926144, essv6878047, essv6962435, essv6896217, essv6968541, essv6951122, essv6781447, essv6777466, essv6872129, essv6753575, essv6726374
SamplesSSM008, SSM083, SSM027, SSM024, SSM075, SSM046, SSM011, SSM064, SSM065, SSM038, SSM039, SSM009, SSM073, SSM093, SSM074, SSM042, SSM088, SSM023, SSM058, SSM028, SSM092, SSM090, SSM021, SSM018, SSM069, SSM029, SSM026, SSM017, SSM019, SSM035, SSM031, SSM067, SSM086, SSM033, SSM085, SSM068, SSM081, SSM072, SSM082, SSM007, SSM015, SSM016, SSM005, SSM037, SSM091, SSM095, SSM025, SSM004, SSM099, SSM098, SSM030, SSM012
Known Genes
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)esv2725162
Frequency
Sample Size96
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


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