A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8917667



Internal ID14916637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:21920866..21920882hg38UCSC Ensembl
Innerchr4:21920868..21920878hg38UCSC Ensembl
Outerchr4:21920852..21920896hg38UCSC Ensembl
chr4:21922489..21922505hg19UCSC Ensembl
Innerchr4:21922491..21922501hg19UCSC Ensembl
Outerchr4:21922475..21922519hg19UCSC Ensembl
chr4:21531587..21531603hg18UCSC Ensembl
Innerchr4:21531599..21531589hg18UCSC Ensembl
Outerchr4:21531573..21531617hg18UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3865
hg1965
hg1865
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3428667
Supporting Variants
SamplesNA19147
Known GenesKCNIP4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8917667
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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