A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3377358



Internal ID15224331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2614227..2615625hg38UCSC Ensembl
Innerchr4:2614625..2615227hg38UCSC Ensembl
Outerchr4:2613227..2616625hg38UCSC Ensembl
chr4:2615954..2617352hg19UCSC Ensembl
Innerchr4:2616352..2616954hg19UCSC Ensembl
Outerchr4:2614954..2618352hg19UCSC Ensembl
chr4:2585752..2587150hg18UCSC Ensembl
Innerchr4:2586752..2586150hg18UCSC Ensembl
Outerchr4:2584752..2588150hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694373
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3377358
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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