A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729622



Internal ID10313258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:3077858..3078963hg38UCSC Ensembl
Outerchr5:3077972..3079077hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381106
hg191106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6865709, essv6840982, essv6925785, essv6911049, essv6734171, essv6958396, essv6715259, essv6922795, essv6844685, essv6730629, essv6914865, essv6934413, essv6693882, essv6676309, essv6736744, essv6748512, essv6751366, essv6974257, essv6969082, essv6704763, essv6697726, essv6956533, essv6759795, essv6757854, essv6817845, essv6918480, essv6739711, essv6670678, essv6777913, essv6951615, essv6781942, essv6767302, essv6726454, essv6802363, essv6903479, essv6885664, essv6742905, essv6932928, essv6798559
SamplesSSM008, SSM064, SSM038, SSM013, SSM073, SSM050, SSM002, SSM057, SSM028, SSM084, SSM021, SSM047, SSM018, SSM061, SSM029, SSM026, SSM017, SSM003, SSM031, SSM067, SSM001, SSM085, SSM068, SSM040, SSM072, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM037, SSM025, SSM004, SSM043, SSM052, SSM049, SSM056, 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)esv2729622
Frequency
Sample Size96
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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