A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694247



Internal ID15042667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:152071250..152073948hg38UCSC Ensembl
Innerchr4:152072250..152072948hg38UCSC Ensembl
Outerchr4:152070250..152074948hg38UCSC Ensembl
chr4:152992402..152995100hg19UCSC Ensembl
Innerchr4:152993402..152994100hg19UCSC Ensembl
Outerchr4:152991402..152996100hg19UCSC Ensembl
chr4:153211852..153214550hg18UCSC Ensembl
Innerchr4:153212852..153213550hg18UCSC Ensembl
Outerchr4:153210852..153215550hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg382699
hg192699
hg182699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3408353
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694247
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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