A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6784888



Internal ID10188761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42477109..42477355hg38UCSC Ensembl
Outerchr21:43897219..43897465hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723549, esv2723548
Supporting Variants
SamplesSSM068
Known GenesRSPH1
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)essv6784888
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