A curated catalogue of human genomic structural variation




Variant Details

Variant: esv989695



Internal ID7076280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:41674591..41688643hg38UCSC Ensembl
Outerchr21:43094751..43108803hg19UCSC Ensembl
Outerchr21:41967820..41981872hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3814053
hg1914053
hg1814053
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565440
SamplesHuRef
Known GenesLINC00111
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv989695
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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