A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736870



Internal ID10320506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:34825308..34826067hg38UCSC Ensembl
Outerchr8:34682826..34683585hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38760
hg19760
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6755032, essv6694856, essv6683166, essv6782869, essv6814885, essv6966317, essv6948420, essv6927379, essv6876199, essv6904540, essv6768021, essv6683043, essv6775132, essv6890731, essv6746369, essv6716152, essv6873233, essv6933763, essv6970079, essv6958113, essv6866332, essv6870267, essv6740512, essv6757822, essv6818919, essv6850150, essv6760510, essv6975941, essv6900164, essv6737426, essv6856179, essv6904326, essv6803032, essv6841840, essv6765397
SamplesSSM100, SSM059, SSM024, SSM064, SSM087, SSM097, SSM013, SSM073, SSM050, SSM002, SSM058, SSM028, SSM092, SSM084, SSM090, SSM061, SSM029, SSM026, SSM089, SSM019, SSM003, SSM001, SSM086, SSM066, SSM068, SSM078, SSM005, SSM037, SSM077, SSM091, SSM055, SSM004, SSM043, SSM052, SSM063
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)esv2736870
Frequency
Sample Size96
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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