A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3389834



Internal ID15236801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:20244751..20244770hg38UCSC Ensembl
Innerchr4:20244747..20244774hg38UCSC Ensembl
Outerchr4:20244728..20244793hg38UCSC Ensembl
chr4:20246374..20246393hg19UCSC Ensembl
Innerchr4:20246370..20246397hg19UCSC Ensembl
Outerchr4:20246351..20246416hg19UCSC Ensembl
chr4:19855472..19855491hg18UCSC Ensembl
Innerchr4:19855495..19855468hg18UCSC Ensembl
Outerchr4:19855449..19855514hg18UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8678862
SamplesNA19240
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3389834
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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