A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694472



Internal ID15082564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:6169824..6172222hg38UCSC Ensembl
Innerchr4:6170824..6171222hg38UCSC Ensembl
Outerchr4:6168824..6173222hg38UCSC Ensembl
chr4:6171551..6173949hg19UCSC Ensembl
Innerchr4:6172551..6172949hg19UCSC Ensembl
Outerchr4:6170551..6174949hg19UCSC Ensembl
chr4:6222452..6224850hg18UCSC Ensembl
Innerchr4:6223452..6223850hg18UCSC Ensembl
Outerchr4:6221452..6225850hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg382399
hg192399
hg182399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3353576
Supporting Variants
SamplesNA19240
Known GenesJAKMIP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694472
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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