A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3393878



Internal ID14894157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5787095..5787237hg38UCSC Ensembl
Innerchr19:5787095..5787237hg38UCSC Ensembl
Outerchr19:5786384..5787419hg38UCSC Ensembl
chr19:5787106..5787248hg19UCSC Ensembl
Innerchr19:5787106..5787248hg19UCSC Ensembl
Outerchr19:5786395..5787430hg19UCSC Ensembl
chr19:5738106..5738248hg18UCSC Ensembl
Innerchr19:5738106..5738248hg18UCSC Ensembl
Outerchr19:5737395..5738430hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38143
hg19143
hg18143
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652024
SamplesNA19240
Known GenesDUS3L
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3393878
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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