A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303478



Internal ID15150426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:39937868..39937869hg38UCSC Ensembl
Innerchr19:39937846..39937891hg38UCSC Ensembl
Outerchr19:39937845..39937892hg38UCSC Ensembl
chr19:40443775..40443776hg19UCSC Ensembl
Innerchr19:40443753..40443798hg19UCSC Ensembl
Outerchr19:40443752..40443799hg19UCSC Ensembl
chr19:45135615..45135616hg18UCSC Ensembl
Innerchr19:45135638..45135593hg18UCSC Ensembl
Outerchr19:45135592..45135639hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381480
hg191480
hg181480
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7766778
SamplesNA12814
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303478
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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