A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692338



Internal ID14720473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43559094..43560892hg38UCSC Ensembl
Innerchr1:43559892..43560094hg38UCSC Ensembl
Outerchr1:43558094..43561892hg38UCSC Ensembl
chr1:44024765..44026563hg19UCSC Ensembl
Innerchr1:44025563..44025765hg19UCSC Ensembl
Outerchr1:44023765..44027563hg19UCSC Ensembl
chr1:43797352..43799150hg18UCSC Ensembl
Innerchr1:43798352..43798150hg18UCSC Ensembl
Outerchr1:43796352..43800150hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3431707
Supporting Variants
SamplesNA19239
Known GenesPTPRF
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692338
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