A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3388355



Internal ID14888637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:11465148..11465149hg38UCSC Ensembl
Innerchr19:11465147..11465150hg38UCSC Ensembl
Outerchr19:11465098..11465199hg38UCSC Ensembl
chr19:11575963..11575964hg19UCSC Ensembl
Innerchr19:11575962..11575965hg19UCSC Ensembl
Outerchr19:11575913..11576014hg19UCSC Ensembl
chr19:11436963..11436964hg18UCSC Ensembl
Innerchr19:11436965..11436962hg18UCSC Ensembl
Outerchr19:11436913..11437014hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38283
hg19283
hg18283
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8740902
SamplesNA12878
Known GenesELAVL3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3388355
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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