A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734278



Internal ID9968605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:38258161..38277949hg38UCSC Ensembl
Outerchr7:38297762..38317550hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3819789
hg1919789
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6811491, essv6715768, essv6889944, essv6712073, essv6705249, essv6827732, essv6786658, essv6875922, essv6727351, essv6881596, essv6856909, essv6754738, essv6830391, essv6930729, essv6834004, essv6903942, essv6687446, essv6680620, essv6797632, essv6818505, essv6690697, essv6884411, essv6705209, essv6802742, essv6872951, essv6671481, essv6667693, essv6948056, essv6805636, essv6765169, essv6963350, essv6799113, essv6890397, essv6734523, essv6865862, essv6808607, essv6939277, essv6723482, essv6778444, essv6730475, essv6964127, essv6680532, essv6794906, essv6915266, essv6762986, essv6943708, essv6771064, essv6969928, essv6887190, essv6923298, essv6814548, essv6899880, essv6907810, essv6694449, essv6746108, essv6901974, essv6893737, essv6740214, essv6837670, essv6731113, essv6845148, essv6849493, essv6708639, essv6698073, essv6767733, essv6743340, essv6701348, essv6684209, essv6861146
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM065, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM074, SSM042, SSM088, SSM002, SSM041, SSM023, SSM058, SSM092, SSM047, SSM018, SSM069, SSM096, SSM089, SSM035, SSM094, SSM003, SSM031, SSM067, SSM001, SSM014, SSM086, SSM033, SSM006, SSM085, SSM081, SSM040, SSM072, SSM082, SSM007, SSM078, SSM016, SSM053, SSM005, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM095, SSM034, SSM004, SSM043, SSM052, SSM098, SSM049, SSM030, SSM063, SSM012
Known GenesTARP
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)esv2734278
Frequency
Sample Size96
Observed Gain0
Observed Loss69
Observed Complex0
Frequencyn/a


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