A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8674026



Internal ID13393506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44468161..44468199hg38UCSC Ensembl
Innerchr1:44468158..44468200hg38UCSC Ensembl
Outerchr1:44468122..44468238hg38UCSC Ensembl
chr1:44933833..44933871hg19UCSC Ensembl
Innerchr1:44933830..44933872hg19UCSC Ensembl
Outerchr1:44933794..44933910hg19UCSC Ensembl
chr1:44706420..44706458hg18UCSC Ensembl
Innerchr1:44706459..44706417hg18UCSC Ensembl
Outerchr1:44706381..44706497hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3395208
Supporting Variants
SamplesNA12892
Known GenesRNF220
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8674026
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