A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737344



Internal ID10320980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:97583160..97583487hg38UCSC Ensembl
Outerchr8:98595388..98595715hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6720108, essv6683510, essv6803067, essv6887542, essv6782919, essv6808927, essv6881907, essv6931178, essv6900193, essv6687830, essv6691092, essv6791226, essv6908276, essv6672164, essv6723913, essv6912000, essv6870308, essv6827089, essv6727760, essv6856261, essv6787125, essv6860932, essv6850229, essv6805938, essv6948464, essv6775179, essv6890777, essv6778867, essv6684578, essv6866389, essv6818994, essv6799584, essv6834381, essv6709002, essv6694896, essv6823045, essv6830774, essv6976029, essv6795394, essv6701800, essv6958201, essv6811796, essv6814923, essv6838062, essv6712474, essv6944232, essv6873270, essv6677223, essv6861655, essv6964805, essv6894121
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM079, SSM087, SSM097, SSM039, SSM073, SSM074, SSM042, SSM088, SSM041, SSM023, SSM090, SSM069, SSM029, SSM096, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM067, SSM044, SSM014, SSM086, SSM066, SSM068, SSM081, SSM072, SSM082, SSM020, SSM015, SSM078, SSM005, SSM080, SSM037, SSM077, SSM076, SSM091, SSM070, SSM034, 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)esv2737344
Frequency
Sample Size96
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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