A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735330



Internal ID9969660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:149489745..149623094hg38UCSC Ensembl
Outerchr7:149186836..149320185hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38133350
hg19133350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6897047, essv6749022, essv6964450, essv6891166, essv6845273, essv6975465, essv6757648, essv6731247, essv6930850, essv6667376, essv6952300, essv6828776, essv6890551, essv6802860, essv6828765, essv6734616, essv6764231, essv6706076, essv6818677, essv6687589, essv6715895, essv6740322, essv6751891, essv6731246, essv6774922, essv6771186, essv6731245, essv6876029, essv6935135, essv6902941, essv6818675, essv6878897, essv6706065, essv6767838, essv6964461, essv6952299, essv6927164, essv6805764, essv6760323, essv6935136, essv6904075, essv6900014, essv6858542, essv6919271, essv6876028, essv6927162, essv6837802, essv6935134, essv6746208, essv6873084, essv6764220, essv6798788, essv6751890, essv6957641, essv6975464, essv6808727, essv6964472, essv6891188, essv6919272, essv6915401, essv6891155, essv6826806, essv6774923, essv6975466, essv6923445, essv6731598, essv6969800, essv6764242
SamplesSSM100, SSM059, SSM008, SSM083, SSM075, SSM011, SSM064, SSM065, SSM097, SSM013, SSM009, SSM073, SSM093, SSM074, SSM002, SSM057, SSM028, SSM092, SSM021, SSM047, SSM018, SSM061, SSM029, SSM026, SSM017, SSM019, SSM035, SSM001, SSM066, SSM006, SSM085, SSM020, SSM007, SSM078, SSM016, SSM080, SSM010, SSM091, SSM055, SSM025, SSM004, SSM099, SSM043, SSM052, SSM049, SSM056, SSM012
Known GenesZNF746, ZNF767
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)esv2735330
Frequency
Sample Size96
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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