A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9756181



Internal ID18383741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10420141..10422624hg38UCSC Ensembl
Outerchr21:10419687..10423044hg38UCSC Ensembl
Innerchr21:11089833..11092316hg19UCSC Ensembl
Outerchr21:11089413..11092770hg19UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg383358
hg193358
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3557434
Supporting Variants
Samples
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9756181
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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