A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6888897



Internal ID10283488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:8548875..8549156hg38UCSC Ensembl
Outerchr21:9437708..9437989hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg38282
hg19282
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722989, esv2722991, esv2722988
Supporting Variants
SamplesSSM096
Known Genes
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)essv6888897
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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