A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735219



Internal ID9969549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:138615351..138615720hg38UCSC Ensembl
Outerchr7:138300096..138300465hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38370
hg19370
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6964162, essv6919226, essv6915368, essv6952268, essv6802835, essv6902719, essv6830511, essv6897023, essv6680727, essv6740299, essv6828498, essv6798531, essv6975430, essv6763953, essv6705359, essv6767823, essv6930828, essv6904054, essv6667750, essv6757628, essv6890833, essv6774893, essv6976928, essv6893863, essv6734600, essv6855766, essv6923417, essv6771163, essv6746193, essv6790882, essv6841581, essv6969776, essv6957608, essv6948175, essv6782559, essv6778559, essv6731331, essv6818652, essv6935108, essv6749000, essv6931784, essv6884497, essv6911672, essv6731221, essv6715863, essv6876006, essv6737230, essv6964308, essv6760303, essv6845241, essv6927128, essv6811601, essv6743414, essv6873052, essv6765229
SamplesSSM059, SSM008, SSM027, SSM024, SSM064, SSM065, SSM087, SSM013, SSM009, SSM073, SSM050, SSM002, SSM028, SSM092, SSM084, SSM021, SSM047, SSM018, SSM061, SSM029, SSM026, SSM017, SSM019, SSM003, SSM067, SSM001, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM076, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesSVOPL
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)esv2735219
Frequency
Sample Size96
Observed Gain0
Observed Loss55
Observed Complex0
Frequencyn/a


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