A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6961290



Internal ID10063502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9997265..9997546hg38UCSC Ensembl
Outerchr21:10475293..10475574hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg38282
hg19282
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723060, esv2723061
Supporting Variants
SamplesSSM026
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)essv6961290
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