A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725241



Internal ID9959545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:47449172..47451946hg38UCSC Ensembl
Outerchr3:47490662..47493436hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg382775
hg192775
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6793864, essv6711131, essv6764528, essv6859866, essv6869124, essv6739311, essv6700218, essv6833086, essv6785594, essv6973404, essv6736406, essv6807814, essv6892803, essv6955711, essv6748179, essv6669862, essv6914438, essv6848698, essv6667163, essv6773951, essv6833709, essv6820620, essv6742558, essv6745334, essv6886380, essv6933888, essv6962446, essv6714783, essv6813639, essv6910604, essv6770088, essv6751016, essv6726384, essv6699010, essv6683300, essv6679700, essv6821701, essv6898598, essv6810723, essv6903034, essv6722529, essv6938221, essv6686593, essv6730134, essv6889493, essv6704317, essv6693387, essv6762168, essv6926153, essv6804840, essv6968546, essv6854079, essv6673155, essv6954684, essv6802023, essv6798036, essv6844341, essv6836699, essv6829508, essv6817233, essv6906691, essv6921473, essv6718663, essv6922316, essv6917994, essv6881620, essv6878053, essv6789727, essv6825584, essv6840508, essv6753653, essv6947060, essv6899051, essv6675735, essv6733844, essv6756901, essv6766941, essv6896224, essv6753934, essv6707742, essv6872135
SamplesSSM010, SSM065, SSM022, SSM027, SSM013, SSM053, SSM082, SSM006, SSM055, SSM091, SSM033, SSM084, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM090, SSM064, SSM031, SSM035, SSM072, SSM071, SSM016, SSM057, SSM001, SSM032, SSM039, SSM024, SSM045, SSM083, SSM050, SSM097, SSM041, SSM077, SSM062, SSM005, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM011, SSM066, SSM028, SSM029, SSM003, SSM030, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM034, SSM063, SSM087, SSM046, SSM019, SSM096, SSM079, SSM052, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM049, SSM008, SSM098, SSM018, SSM076, SSM058, SSM059, SSM081, SSM070, SSM080
Known GenesSCAP
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)esv2725241
Frequency
Sample Size96
Observed Gain0
Observed Loss81
Observed Complex0
Frequencyn/a


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