A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737181



Internal ID10320817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:74964637..74965030hg38UCSC Ensembl
Outerchr8:75876872..75877265hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38394
hg19394
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6944216, essv6701782, essv6908258, essv6708992, essv6681030, essv6850201, essv6801044, essv6827073, essv6900184, essv6687816, essv6684820, essv6771463, essv6904359, essv6958171, essv6915631, essv6931168, essv6897206, essv6808913, essv6795378, essv6814911, essv6890762, essv6683432, essv6887531, essv6879069, essv6723905, essv6881891, essv6694883, essv6884693, essv6720095, essv6698349, essv6677203, essv6716178, essv6684564
SamplesSSM100, SSM071, SSM075, SSM045, SSM065, SSM038, SSM097, SSM039, SSM013, SSM009, SSM093, SSM041, SSM023, SSM096, SSM026, SSM035, SSM094, SSM032, SSM044, SSM001, SSM014, SSM086, SSM033, SSM020, SSM016, SSM005, SSM080, SSM037, SSM077, SSM095, SSM034, SSM099, SSM043
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)esv2737181
Frequency
Sample Size96
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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