A curated catalogue of human genomic structural variation




Variant Details

Variant: esv989611



Internal ID6725579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:201005221..201017581hg38UCSC Ensembl
Outerchr1:200974349..200986709hg19UCSC Ensembl
Outerchr1:199240972..199253332hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3812361
hg1912361
hg1812361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563779
SamplesHuRef
Known GenesKIF21B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv989611
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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