A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3449361



Internal ID14949624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:9970299..9970554hg38UCSC Ensembl
Innerchr19:9970299..9970554hg38UCSC Ensembl
Outerchr19:9969825..9970720hg38UCSC Ensembl
chr19:10080975..10081230hg19UCSC Ensembl
Innerchr19:10080975..10081230hg19UCSC Ensembl
Outerchr19:10080501..10081396hg19UCSC Ensembl
chr19:9941975..9942230hg18UCSC Ensembl
Innerchr19:9941975..9942230hg18UCSC Ensembl
Outerchr19:9941501..9942396hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38256
hg19256
hg18256
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652033
SamplesNA19240
Known GenesCOL5A3
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3449361
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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