A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737775



Internal ID9972114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141335179..141335497hg38UCSC Ensembl
Outerchr8:142345278..142345596hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1228e201
Supporting Variantsessv6850310, essv6944286, essv6701852, essv6964870, essv6838096, essv6672238, essv6866441, essv6861719, essv6958280, essv6795445, essv6727801, essv6894165, essv6850311, essv6870337, essv6799629, essv6672239, essv6866442, essv6677270, essv6856330, essv6720159
SamplesSSM083, SSM071, SSM027, SSM046, SSM087, SSM039, SSM088, SSM023, SSM090, SSM026, SSM089, SSM032, SSM031, SSM044, SSM086, SSM072, 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)esv2737775
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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