A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736536



Internal ID10320172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:6730313..6730669hg38UCSC Ensembl
Outerchr8:6587834..6588190hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38357
hg19357
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6860231, essv6861556, essv6948399, essv6811749, essv6894058, essv6672023, essv6727693, essv6866297, essv6800432, essv6708939, essv6803011, essv6701715, essv6677138, essv6827011, essv6682954, essv6705612, essv6879024, essv6712406, essv6720041, essv6837988, essv6935358, essv6716122, essv6964672, essv6856127, essv6890703, essv6915572, essv6767995, essv6970044, essv6931107, essv6694824, essv6850102, essv6818883, essv6723846, essv6845434, essv6975881, essv6830717, essv6799500, essv6791157, essv6814853
SamplesSSM083, SSM027, SSM024, SSM045, SSM046, SSM011, SSM064, SSM087, SSM097, SSM039, SSM009, SSM073, SSM093, SSM042, SSM088, SSM041, SSM028, SSM021, SSM029, SSM089, SSM032, SSM031, SSM044, SSM086, SSM085, SSM081, SSM040, SSM072, SSM020, SSM078, SSM016, SSM005, SSM080, SSM037, SSM077, SSM076, SSM070, SSM043, SSM098
Known GenesAGPAT5
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)esv2736536
Frequency
Sample Size96
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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