A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723141



Internal ID10306777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10746953..10747720hg38UCSC Ensembl
Outerchr21:10764737..10765504hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg38768
hg19768
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv697e201
Supporting Variantsessv6666752, essv6909936, essv6853049, essv6675046, essv6868616, essv6780717
SamplesSSM029, SSM089, SSM031, SSM067, 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)esv2723141
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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