A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303566



Internal ID14803828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7638977..7638978hg38UCSC Ensembl
Innerchr16:7638942..7639013hg38UCSC Ensembl
Outerchr16:7638941..7639014hg38UCSC Ensembl
chr16:7688979..7688980hg19UCSC Ensembl
Innerchr16:7688944..7689015hg19UCSC Ensembl
Outerchr16:7688943..7689016hg19UCSC Ensembl
chr16:7628980..7628981hg18UCSC Ensembl
Innerchr16:7629016..7628945hg18UCSC Ensembl
Outerchr16:7628944..7629017hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38122
hg19122
hg18122
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7746526, essv7743984, essv7758537
SamplesNA18511, NA18858, NA18909
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303566
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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