A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3426049



Internal ID14926320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248743828..248744826hg38UCSC Ensembl
Innerchr1:248743827..248744827hg38UCSC Ensembl
chr1:248907129..248908127hg19UCSC Ensembl
Innerchr1:248907128..248908128hg19UCSC Ensembl
chr1:246973752..246974750hg18UCSC Ensembl
Innerchr1:246974751..246973751hg18UCSC Ensembl
Outerchr1:246972752..246975750hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692234
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3426049
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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