A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6816469



Internal ID10218303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10788535..10790160hg38UCSC Ensembl
Outerchr21:10722297..10723922hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg381626
hg191626
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723099, esv2723094
Supporting Variants
SamplesSSM077
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)essv6816469
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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