A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736713



Internal ID9971045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:19233925..19234275hg38UCSC Ensembl
Outerchr8:19091435..19091785hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38351
hg19351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1200e201
Supporting Variantsessv6782849, essv6966162, essv6915590, essv6775124, essv6672050, essv6948413, essv6752075, essv6762982, essv6795320, essv6723863, essv6731474, essv6701730, essv6694842, essv6818904, essv6705627, essv6900150, essv6860342, essv6687776
SamplesSSM100, SSM071, SSM024, SSM045, SSM011, SSM039, SSM057, SSM047, SSM062, SSM035, SSM031, SSM066, SSM068, SSM040, SSM078, SSM016, SSM037, SSM004
Known GenesLOC100128993
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)esv2736713
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer