A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718571



Internal ID9952863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:40882894..41028536hg38UCSC Ensembl
Outerchr19:41388799..41534441hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38145643
hg19145643
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6863628, essv6761679, essv6901407, essv6797137, essv6950205, essv6812970, essv6932976, essv6696718, essv6880243, essv6954381, essv6804224, essv6733194, essv6717858, essv6717857, essv6713961, essv6941456, essv6898395, essv6780519, essv6874542, essv6905857, essv6902260, essv6871500, essv6839674, essv6725524, essv6783487, essv6744740, essv6932977, essv6868429, essv6729340, essv6917142, essv6941455, essv6967506, essv6784671, essv6846741, essv6804226, essv6801333, essv6735830, essv6946153, essv6888802, essv6954380, essv6843556, essv6883073, essv6717198, essv6913704, essv6689078, essv6868428, essv6804225, essv6692470, essv6696719, essv6909800, essv6781754, essv6812971, essv6666988, essv6797136, essv6871499, essv6668739, essv6674818, essv6710351, essv6841908, essv6788841, essv6937349, essv6810150, essv6921378, essv6729339, essv6781765, essv6954382, essv6746309, essv6950204, essv6721699, essv6961027, essv6874458, essv6792949, essv6913703, essv6928805, essv6832307, essv6801331, essv6835886, essv6750403
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM013, SSM073, SSM093, SSM042, SSM088, SSM041, SSM023, SSM084, SSM090, SSM021, SSM047, SSM069, SSM061, SSM096, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM031, SSM067, SSM044, SSM001, SSM014, SSM006, SSM085, SSM068, SSM081, SSM072, SSM082, SSM020, SSM007, SSM015, SSM016, SSM053, SSM037, SSM076, SSM022, SSM010, SSM091, SSM070, SSM025, SSM004, SSM099, SSM043, SSM049, SSM056, SSM030, SSM012
Known GenesCYP2B6, CYP2B7P, CYP2G1P
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)esv2718571
Frequency
Sample Size96
Observed Gain0
Observed Loss61
Observed Complex0
Frequencyn/a


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