A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6689197



Internal ID9755337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42569967..42570132hg38UCSC Ensembl
Outerchr21:43990077..43990242hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38166
hg19166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723557, esv2723556
Supporting Variants
SamplesSSM035
Known GenesSLC37A1
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)essv6689197
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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