A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3557663



Internal ID18412053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:34923696..34923893hg38UCSC Ensembl
Outerchr21:34923656..34923925hg38UCSC Ensembl
Innerchr21:36295993..36296190hg19UCSC Ensembl
Outerchr21:36295953..36296222hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9756410
Samples
Known GenesRUNX1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3557663
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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