A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303004



Internal ID15149952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14833901..14834007hg38UCSC Ensembl
Innerchr19:14833954..14833954hg38UCSC Ensembl
Outerchr19:14833801..14834107hg38UCSC Ensembl
chr19:14944713..14944819hg19UCSC Ensembl
Innerchr19:14944766..14944766hg19UCSC Ensembl
Outerchr19:14944613..14944919hg19UCSC Ensembl
chr19:14805713..14805819hg18UCSC Ensembl
Innerchr19:14805766..14805766hg18UCSC Ensembl
Outerchr19:14805613..14805919hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38107
hg19107
hg18107
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7739221, essv7733690, essv7737748, essv7733344, essv7736633, essv7738857, essv7736743, essv7735311, essv7735922, essv7732174, essv7733969, essv7739053, essv7736456, essv7732993
SamplesNA18502, NA11995, NA11931, NA18944, NA18547, NA18582, NA19138, NA18949, NA12489, NA19114, NA18945, NA18952, NA18501, NA19129
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303004
Frequency
Sample Size185
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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