A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304179



Internal ID15151127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:31438231..31438232hg38UCSC Ensembl
Innerchr19:31438209..31438254hg38UCSC Ensembl
Outerchr19:31438208..31438255hg38UCSC Ensembl
chr19:31929137..31929138hg19UCSC Ensembl
Innerchr19:31929115..31929160hg19UCSC Ensembl
Outerchr19:31929114..31929161hg19UCSC Ensembl
chr19:36620977..36620978hg18UCSC Ensembl
Innerchr19:36621000..36620955hg18UCSC Ensembl
Outerchr19:36620954..36621001hg18UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg384966
hg194966
hg184966
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7765523
SamplesNA12249
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304179
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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