A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3339499



Internal ID14839769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49383744..49383799hg38UCSC Ensembl
Innerchr13:49383758..49383785hg38UCSC Ensembl
Outerchr13:49383703..49383840hg38UCSC Ensembl
chr13:49957880..49957935hg19UCSC Ensembl
Innerchr13:49957894..49957921hg19UCSC Ensembl
Outerchr13:49957839..49957976hg19UCSC Ensembl
chr13:48855881..48855936hg18UCSC Ensembl
Innerchr13:48855922..48855895hg18UCSC Ensembl
Outerchr13:48855840..48855977hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3878
hg1978
hg1878
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8672639, essv8672641, essv8672642, essv8672640
SamplesNA19239, NA12892, NA12891, NA12878
Known GenesCAB39L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3339499
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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