A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3350914



Internal ID15197895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:67777911..67778213hg38UCSC Ensembl
Innerchr1:67778028..67778093hg38UCSC Ensembl
Outerchr1:67777791..67778330hg38UCSC Ensembl
chr1:68243594..68243896hg19UCSC Ensembl
Innerchr1:68243711..68243776hg19UCSC Ensembl
Outerchr1:68243474..68244013hg19UCSC Ensembl
chr1:68016182..68016484hg18UCSC Ensembl
Innerchr1:68016299..68016364hg18UCSC Ensembl
Outerchr1:68016062..68016601hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38303
hg19303
hg18303
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8670906, essv8670905
SamplesNA19238, NA19239
Known GenesGNG12
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3350914
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer