A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8920069



Internal ID13919989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:108344366..108344382hg38UCSC Ensembl
Innerchr4:108344368..108344378hg38UCSC Ensembl
Outerchr4:108344354..108344394hg38UCSC Ensembl
chr4:109265522..109265538hg19UCSC Ensembl
Innerchr4:109265524..109265534hg19UCSC Ensembl
Outerchr4:109265510..109265550hg19UCSC Ensembl
chr4:109484971..109484987hg18UCSC Ensembl
Innerchr4:109484983..109484973hg18UCSC Ensembl
Outerchr4:109484959..109484999hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38277
hg19277
hg18277
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3334670
Supporting Variants
SamplesNA18523
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8920069
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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