A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726771



Internal ID10310407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1277986..1279734hg38UCSC Ensembl
Outerchr4:1271774..1273522hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381749
hg191749
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6757002, essv6821821, essv6878169, essv6854329, essv6955973, essv6724131, essv6700088, essv6722690, essv6794056, essv6745470, essv6938395, essv6739444, essv6718822, essv6929838, essv6892947, essv6926297, essv6755065, essv6875244, essv6781625, essv6872273, essv6785778, essv6689895, essv6697500, essv6790432, essv6711282, essv6947214, essv6903186, essv6934057, essv6912485, essv6840670, essv6774104, essv6789892, essv6896339, essv6922498, essv6733951, essv6730305, essv6674266, essv6914572, essv6883778, essv6804977, essv6845265, essv6848171, essv6955896, essv6886511, essv6829646, essv6918171, essv6767053, essv6742667, essv6973699, essv6817435, essv6882842, essv6922874, essv6714950, essv6704463, essv6910754, essv6751145, essv6777616, essv6693560, essv6736524, essv6833237, essv6754058, essv6962703, essv6762268, essv6679861, essv6844458, essv6860070, essv6813796, essv6707886, essv6748305, essv6798226, essv6836853, essv6968720, essv6764626, essv6802142, essv6770240
SamplesSSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM045, SSM064, SSM065, SSM087, SSM038, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM058, SSM028, SSM092, SSM084, SSM021, SSM047, SSM018, SSM069, SSM029, SSM096, SSM062, SSM026, SSM017, SSM019, SSM003, SSM067, SSM044, SSM001, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM037, SSM077, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM063, 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)esv2726771
Frequency
Sample Size96
Observed Gain0
Observed Loss75
Observed Complex0
Frequencyn/a


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