A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3377952



Internal ID14878220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49385733..49385733hg38UCSC Ensembl
Innerchr13:49385732..49385734hg38UCSC Ensembl
Outerchr13:49385683..49385783hg38UCSC Ensembl
chr13:49959869..49959869hg19UCSC Ensembl
Innerchr13:49959868..49959870hg19UCSC Ensembl
Outerchr13:49959819..49959919hg19UCSC Ensembl
chr13:48857870..48857870hg18UCSC Ensembl
Innerchr13:48857871..48857869hg18UCSC Ensembl
Outerchr13:48857820..48857920hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38295
hg19295
hg18295
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8740785
SamplesNA19240
Known GenesCAB39L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3377952
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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