A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726382



Internal ID10310018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:190520180..190522823hg38UCSC Ensembl
Outerchr3:190237969..190240612hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg382644
hg192644
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6906821, essv6794008, essv6947173, essv6903141, essv6886477, essv6802111, essv6697476, essv6733925, essv6869218, essv6770196, essv6759554, essv6821818, essv6896316, essv6723887, essv6854271, essv6864791, essv6841931, essv6745433, essv6848118, essv6762243, essv6872235, essv6849887, essv6929785, essv6910262, essv6955617, essv6807921, essv6914534, essv6679816, essv6951265, essv6693518, essv6689862, essv6813761, essv6860024, essv6942599, essv6892904, essv6798169, essv6825715, essv6739415, essv6844427, essv6926256, essv6726490, essv6781578, essv6938349, essv6790066, essv6918114, essv6736497, essv6922458, essv6777567, essv6785725, essv6707856, essv6922497, essv6910714, essv6774060, essv6821543, essv6754034, essv6722648, essv6889597, essv6767023, essv6730258, essv6699855, essv6754743
SamplesSSM036, SSM008, SSM071, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM013, SSM009, SSM073, SSM050, SSM088, SSM002, SSM041, SSM023, SSM058, SSM090, SSM047, SSM018, SSM069, SSM061, SSM096, SSM062, SSM089, SSM017, SSM019, SSM003, SSM067, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM072, SSM020, SSM007, SSM015, SSM016, SSM080, SSM037, SSM077, SSM022, SSM010, SSM091, SSM055, SSM025, SSM004, SSM099, SSM052, SSM098, SSM049
Known GenesIL1RAP
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)esv2726382
Frequency
Sample Size96
Observed Gain0
Observed Loss61
Observed Complex0
Frequencyn/a


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