A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737553



Internal ID9971892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:125669117..125669474hg38UCSC Ensembl
Outerchr8:126681361..126681718hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38358
hg19358
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6811822, essv6808949, essv6900214, essv6964845, essv6923721, essv6887567, essv6879095, essv6791248, essv6720139, essv6782937, essv6881929, essv6691111, essv6723933, essv6834400, essv6856294, essv6805959, essv6672203, essv6944265, essv6677253, essv6775191, essv6861209, essv6870323, essv6694924, essv6687845, essv6884717, essv6787152, essv6819023, essv6939741, essv6814953, essv6850275, essv6948483, essv6861695, essv6701837, essv6866422, essv6684609, essv6705699, essv6958246
SamplesSSM100, SSM036, SSM027, SSM024, SSM075, SSM045, SSM011, SSM087, SSM039, SSM093, SSM074, SSM088, SSM023, SSM090, SSM018, SSM069, SSM096, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM044, SSM086, SSM066, SSM068, SSM040, SSM082, SSM078, SSM037, SSM077, SSM076, SSM022, SSM070, SSM095, SSM034
Known Genes
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)esv2737553
Frequency
Sample Size96
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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