A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6769417



Internal ID9826675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:17240021..17241388hg38UCSC Ensembl
Outerchr21:18612339..18613706hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg381368
hg191368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723203, esv2723192
Supporting Variants
SamplesSSM064
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)essv6769417
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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