A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7732876



Internal ID14533154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:29622639..29622640hg38UCSC Ensembl
Outerchr19:29622511..29622769hg38UCSC Ensembl
Innerchr19:30113546..30113547hg19UCSC Ensembl
Outerchr19:30113418..30113676hg19UCSC Ensembl
Innerchr19:34805387..34805386hg18UCSC Ensembl
Outerchr19:34805258..34805516hg18UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38259
hg19259
hg18259
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302793
Supporting Variants
SamplesNA18948
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7732876
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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