A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6876053



Internal ID9664417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:38528410..38528736hg38UCSC Ensembl
Outerchr21:39900334..39900660hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723419
Supporting Variants
SamplesSSM011
Known GenesERG
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)essv6876053
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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