A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3384660



Internal ID14884941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:267152..268350hg38UCSC Ensembl
Innerchr16:267350..268152hg38UCSC Ensembl
Outerchr16:266152..269350hg38UCSC Ensembl
chr16:317151..318349hg19UCSC Ensembl
Innerchr16:317349..318151hg19UCSC Ensembl
Outerchr16:316151..319349hg19UCSC Ensembl
chr16:257152..258350hg18UCSC Ensembl
Innerchr16:258152..257350hg18UCSC Ensembl
Outerchr16:256152..259350hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1479e59
Supporting Variantsessv8689913
SamplesNA19239
Known GenesITFG3, RGS11
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3384660
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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