A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737411



Internal ID10321047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:107368442..107368851hg38UCSC Ensembl
Outerchr8:108380670..108381079hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38410
hg19410
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6791231, essv6870311, essv6976045, essv6893865, essv6908282, essv6912006, essv6887550, essv6823057, essv6803073, essv6782924, essv6866397, essv6712485, essv6701812, essv6760561, essv6827097, essv6894126, essv6856272, essv6727767, essv6672174, essv6811803, essv6691095, essv6687832, essv6958215, essv6830797, essv6948474, essv6900201, essv6934152, essv6897222, essv6801288, essv6819001, essv6743615, essv6904380, essv6683565, essv6944247, essv6677231, essv6723919, essv6746414, essv6694905, essv6879086, essv6698361, essv6861666, essv6919560, essv6705686, essv6731532, essv6787135, essv6805944, essv6684584, essv6766854, essv6931186, essv6860998, essv6952617, essv6966728, essv6686042, essv6720115, essv6808933, essv6876233, essv6841892
SamplesSSM100, SSM036, SSM008, SSM024, SSM075, SSM045, SSM046, SSM011, SSM079, SSM087, SSM038, SSM039, SSM013, SSM009, SSM073, SSM093, SSM074, SSM042, SSM088, SSM023, SSM092, SSM084, SSM090, SSM047, SSM069, SSM061, SSM029, SSM096, SSM026, SSM089, SSM017, SSM035, SSM032, SSM003, SSM031, SSM044, SSM001, SSM014, SSM068, SSM040, SSM020, SSM015, SSM078, SSM053, SSM005, SSM080, SSM037, SSM076, SSM010, SSM055, SSM070, SSM025, SSM034, SSM004, SSM099, SSM098, SSM012
Known GenesANGPT1
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)esv2737411
Frequency
Sample Size96
Observed Gain0
Observed Loss57
Observed Complex0
Frequencyn/a


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