A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6892258



Internal ID9939744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:46183711..46183872hg38UCSC Ensembl
Outerchr21:47603625..47603786hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723902, esv2723903
Supporting Variants
SamplesSSM097
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)essv6892258
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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