A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725200



Internal ID10308836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:42796837..42799351hg38UCSC Ensembl
Outerchr3:42838329..42840843hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg382515
hg192515
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6836695, essv6683293, essv6820586, essv6810719, essv6942438, essv6926148, essv6929663, essv6770083, essv6698999, essv6840506, essv6756899, essv6844339, essv6751012, essv6718661, essv6777468, essv6910601, essv6968543, essv6739307, essv6714779, essv6821695, essv6689745, essv6764526, essv6753598, essv6878049, essv6722525, essv6669854, essv6789110, essv6938216, essv6785591, essv6781452, essv6722865, essv6813637, essv6679697, essv6881586, essv6798033, essv6899046, essv6889489, essv6847899, essv6859858, essv6673132, essv6933886, essv6707738, essv6686590, essv6766939, essv6693382, essv6733841, essv6773947, essv6947056, essv6793858, essv6736404, essv6951125, essv6922311, essv6883648, essv6973396, essv6962441, essv6903031, essv6864647, essv6854072, essv6807811, essv6753929, essv6955699, essv6886373, essv6745331, essv6704313, essv6711127, essv6869121, essv6675730, essv6897486, essv6833487, essv6848654, essv6804836, essv6802018, essv6872133, essv6697380, essv6667162, essv6700212, essv6789725, essv6914436, essv6825578, essv6906686, essv6875120, essv6748177, essv6954651, essv6759451, essv6829504, essv6833083, essv6742556, essv6817227, essv6892801, essv6762166, essv6921440, essv6896219, essv6730128, essv6726378, essv6917990, essv6880817
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesHIGD1A
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)esv2725200
Frequency
Sample Size96
Observed Gain0
Observed Loss96
Observed Complex0
Frequencyn/a


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