A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7738422



Internal ID14249689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:62120416..62120417hg38UCSC Ensembl
Outerchr3:62120262..62120571hg38UCSC Ensembl
Innerchr3:62106090..62106091hg19UCSC Ensembl
Outerchr3:62105936..62106245hg19UCSC Ensembl
Innerchr3:62081131..62081130hg18UCSC Ensembl
Outerchr3:62080976..62081285hg18UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38310
hg19310
hg18310
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302772
Supporting Variants
SamplesNA18592
Known GenesPTPRG
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7738422
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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