A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6797321



Internal ID9851917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:17069141..17069269hg38UCSC Ensembl
Outerchr21:18441459..18441587hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723192, esv2723199
Supporting Variants
SamplesSSM071
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)essv6797321
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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