A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6729518



Internal ID9793362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:32771700..32772120hg38UCSC Ensembl
Outerchr21:34144011..34144431hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38421
hg19421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723346
Supporting Variants
SamplesSSM046
Known GenesC21orf49, PAXBP1
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)essv6729518
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