A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6807278



Internal ID10208260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10788543..10789081hg38UCSC Ensembl
Outerchr21:10723376..10723914hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg38539
hg19539
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723094, esv2723102
Supporting Variants
SamplesSSM074
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)essv6807278
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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