A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3395739



Internal ID14896017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1278223..1278223hg38UCSC Ensembl
Innerchr19:1278222..1278224hg38UCSC Ensembl
Outerchr19:1278183..1278243hg38UCSC Ensembl
chr19:1278222..1278222hg19UCSC Ensembl
Innerchr19:1278221..1278223hg19UCSC Ensembl
Outerchr19:1278182..1278242hg19UCSC Ensembl
chr19:1229222..1229222hg18UCSC Ensembl
Innerchr19:1229223..1229221hg18UCSC Ensembl
Outerchr19:1229182..1229242hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3863
hg1963
hg1863
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8643250
Samples
Known GenesC19orf24
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3395739
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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