A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3433334



Internal ID15280290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:39937874..39937893hg38UCSC Ensembl
Innerchr19:39937870..39937897hg38UCSC Ensembl
Outerchr19:39937851..39937916hg38UCSC Ensembl
chr19:40443781..40443800hg19UCSC Ensembl
Innerchr19:40443777..40443804hg19UCSC Ensembl
Outerchr19:40443758..40443823hg19UCSC Ensembl
chr19:45135621..45135640hg18UCSC Ensembl
Innerchr19:45135644..45135617hg18UCSC Ensembl
Outerchr19:45135598..45135663hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381000
hg191000
hg181000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9677991
SamplesNA12814
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3433334
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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