A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737464



Internal ID10321100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:115475530..115476539hg38UCSC Ensembl
Outerchr8:116487757..116488766hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg381010
hg191010
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6687840, essv6819011, essv6691103, essv6720128, essv6890792, essv6677246, essv6856282, essv6964831, essv6778878, essv6701827, essv6827110, essv6808942, essv6765435, essv6861681, essv6712492, essv6684597, essv6958231, essv6894137, essv6887557, essv6861098, essv6944256, essv6923714, essv6908299, essv6866407, essv6976057, essv6672187, essv6811812, essv6727775, essv6850255
SamplesSSM036, SSM027, SSM075, SSM046, SSM011, SSM087, SSM097, SSM039, SSM042, SSM088, SSM023, SSM018, SSM029, SSM096, SSM026, SSM089, SSM035, SSM032, SSM031, SSM067, SSM044, SSM014, SSM086, SSM078, SSM080, SSM076, SSM034, SSM098, SSM063
Known GenesTRPS1
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)esv2737464
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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