A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737422



Internal ID10321058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:108717896..108718259hg38UCSC Ensembl
Outerchr8:109730125..109730488hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38364
hg19364
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6701813, essv6814938, essv6687834, essv6861668, essv6879088, essv6677233, essv6799592, essv6964821, essv6691096, essv6827099, essv6830782, essv6672175, essv6834387, essv6856273, essv6900202, essv6819003, essv6808934, essv6912008, essv6731534, essv6866400, essv6861009, essv6716192, essv6709010, essv6958217, essv6811804, essv6684586, essv6884707, essv6894127, essv6890782, essv6698366
SamplesSSM100, SSM036, SSM027, SSM075, SSM011, SSM087, SSM038, SSM097, SSM039, SSM093, SSM088, SSM041, SSM047, SSM026, SSM089, SSM035, SSM032, SSM031, SSM081, SSM072, SSM082, SSM015, SSM078, SSM080, SSM077, SSM076, SSM095, SSM034, SSM043, SSM098
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)esv2737422
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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