A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3414620



Internal ID14914893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7361650..7362848hg38UCSC Ensembl
Innerchr16:7361848..7362650hg38UCSC Ensembl
Outerchr16:7360650..7363848hg38UCSC Ensembl
chr16:7411651..7412849hg19UCSC Ensembl
Innerchr16:7411849..7412651hg19UCSC Ensembl
Outerchr16:7410651..7413849hg19UCSC Ensembl
chr16:7351652..7352850hg18UCSC Ensembl
Innerchr16:7352652..7351850hg18UCSC Ensembl
Outerchr16:7350652..7353850hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8690440
SamplesNA19239
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3414620
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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