A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3412000



Internal ID14912273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43558994..43561092hg38UCSC Ensembl
Innerchr1:43559994..43560092hg38UCSC Ensembl
Outerchr1:43557994..43562092hg38UCSC Ensembl
chr1:44024665..44026763hg19UCSC Ensembl
Innerchr1:44025665..44025763hg19UCSC Ensembl
Outerchr1:44023665..44027763hg19UCSC Ensembl
chr1:43797252..43799350hg18UCSC Ensembl
Innerchr1:43798252..43798350hg18UCSC Ensembl
Outerchr1:43796252..43800350hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv82e59
Supporting Variantsessv8692337
SamplesNA19240
Known GenesPTPRF
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3412000
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