A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723681



Internal ID9957981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44759178..44759665hg38UCSC Ensembl
Outerchr21:46179093..46179580hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38488
hg19488
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6780775, essv6906054, essv6679076, essv6789049, essv6836097, essv6883208, essv6797365, essv6843825, essv6937592
SamplesSSM071, SSM013, SSM084, SSM021, SSM069, SSM094, SSM032, SSM067, SSM082
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)esv2723681
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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