A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6679101



Internal ID10092131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:46111667..46111820hg38UCSC Ensembl
Outerchr21:47531581..47531734hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723889
Supporting Variants
SamplesSSM032
Known GenesCOL6A2
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)essv6679101
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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