A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6721877



Internal ID10129839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:18987927..18988096hg38UCSC Ensembl
Outerchr21:20360245..20360414hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723221, esv2723222
Supporting Variants
SamplesSSM044
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)essv6721877
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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