A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743456



Internal ID10324426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:130300447..130301957hg38UCSC Ensembl
Outerchr10:132098711..132100221hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg381511
hg191511
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6838389, essv6771839, essv6924097, essv6720465, essv6927726, essv6944661, essv6803323, essv6731885, essv6728102, essv6755360, essv6672784, essv6891069, essv6688103, essv6716547, essv6819434, essv6809202, essv6736643, essv6684880, essv6791606, essv6681367, essv6783323, essv6791605, essv6931585, essv6779222, essv6897472, essv6695306, essv6900464, essv6958865, essv6831086, essv6712794, essv6919920, essv6970542, essv6882156, essv6809201, essv6746651, essv6795786, essv6737719, essv6856839, essv6834678, essv6720463, essv6724262, essv6677586, essv6691405, essv6900463, essv6850812, essv6737720, essv6823396, essv6771838, essv6749506, essv6707931, essv6706004, essv6812057, essv6827461, essv6940081, essv6870558, essv6887828, essv6799961, essv6815250, essv6842215, essv6740862, essv6695305, essv6815249, essv6823397, essv6870557, essv6873510, essv6965390, essv6900466, essv6819433, essv6806204, essv6924098, essv6787526, essv6685809, essv6976723, essv6758062, essv6698595, essv6834677, essv6969451, essv6769787
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM075, SSM045, SSM046, SSM079, SSM065, SSM087, SSM038, SSM097, SSM073, SSM050, SSM074, SSM042, SSM023, SSM058, SSM028, SSM084, SSM090, SSM047, SSM018, SSM069, SSM029, SSM096, SSM026, SSM017, SSM019, SSM035, SSM094, SSM032, SSM031, SSM067, SSM044, SSM001, SSM086, SSM033, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM078, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM091, SSM055, SSM070, SSM034, SSM004, SSM099, SSM043, SSM052, SSM056
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)esv2743456
Frequency
Sample Size96
Observed Gain0
Observed Loss64
Observed Complex0
Frequencyn/a


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