A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3381552



Internal ID15228524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:18388076..18388095hg38UCSC Ensembl
Innerchr4:18388072..18388099hg38UCSC Ensembl
Outerchr4:18388053..18388118hg38UCSC Ensembl
chr4:18389699..18389718hg19UCSC Ensembl
Innerchr4:18389695..18389722hg19UCSC Ensembl
Outerchr4:18389676..18389741hg19UCSC Ensembl
chr4:17998797..17998816hg18UCSC Ensembl
Innerchr4:17998820..17998793hg18UCSC Ensembl
Outerchr4:17998774..17998839hg18UCSC 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 Variantsessv9614246
SamplesNA12812
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3381552
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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