A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309926



Internal ID15156877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:31589712..31589713hg38UCSC Ensembl
Innerchr4:31589559..31589866hg38UCSC Ensembl
Outerchr4:31589558..31589867hg38UCSC Ensembl
chr4:31591334..31591335hg19UCSC Ensembl
Innerchr4:31591181..31591488hg19UCSC Ensembl
Outerchr4:31591180..31591489hg19UCSC Ensembl
chr4:31200432..31200433hg18UCSC Ensembl
Innerchr4:31200586..31200279hg18UCSC Ensembl
Outerchr4:31200278..31200587hg18UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg38225
hg19225
hg18225
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838920, essv7837927
SamplesNA19238, NA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309926
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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