A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3393278



Internal ID15240243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:87152..112950hg38UCSC Ensembl
Innerchr19:88152..111950hg38UCSC Ensembl
Outerchr19:86152..113950hg38UCSC Ensembl
chr19:87152..112950hg19UCSC Ensembl
Innerchr19:88152..111950hg19UCSC Ensembl
Outerchr19:86152..113950hg19UCSC Ensembl
chr19:38152..63950hg18UCSC Ensembl
Innerchr19:39152..62950hg18UCSC Ensembl
Outerchr19:37152..64950hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3825799
hg1925799
hg1825799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1959e59
Supporting Variantsessv8691510
SamplesNA19238
Known GenesOR4F17
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3393278
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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