A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9756410



Internal ID18383970
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 StatusS
Merged Variantsesv3557663
Supporting Variants
Samples
Known GenesRUNX1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9756410
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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