A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737774



Internal ID9972113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141335174..141335310hg38UCSC Ensembl
Outerchr8:142345273..142345409hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1227e201
Supporting Variantsessv6850310, essv6908320, essv6964870, essv6672238, essv6866441, essv6861719, essv6958280, essv6856330
SamplesSSM027, SSM087, SSM088, SSM026, SSM089, SSM031, SSM014, SSM086
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)esv2737774
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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