A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3401925



Internal ID14902201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7193951..7193970hg38UCSC Ensembl
Innerchr16:7193960..7193961hg38UCSC Ensembl
Outerchr16:7193942..7193979hg38UCSC Ensembl
chr16:7243952..7243971hg19UCSC Ensembl
Innerchr16:7243961..7243962hg19UCSC Ensembl
Outerchr16:7243943..7243980hg19UCSC Ensembl
chr16:7183953..7183972hg18UCSC Ensembl
Innerchr16:7183962..7183963hg18UCSC Ensembl
Outerchr16:7183944..7183981hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865849
SamplesNA12005
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3401925
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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