A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3383393



Internal ID15230363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93324143..93324169hg38UCSC Ensembl
Innerchr1:93324102..93324210hg38UCSC Ensembl
Outerchr1:93324076..93324236hg38UCSC Ensembl
chr1:93789700..93789726hg19UCSC Ensembl
Innerchr1:93789659..93789767hg19UCSC Ensembl
Outerchr1:93789633..93789793hg19UCSC Ensembl
chr1:93562288..93562314hg18UCSC Ensembl
Innerchr1:93562355..93562247hg18UCSC Ensembl
Outerchr1:93562221..93562381hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863729
SamplesNA12005
Known GenesLOC100131564
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3383393
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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