A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6950478



Internal ID9707191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:46183710..46183898hg38UCSC Ensembl
Outerchr21:47603624..47603812hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38189
hg19189
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723903
Supporting Variants
SamplesSSM024
Known GenesSPATC1L
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)essv6950478
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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