A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8921393



Internal ID14213845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:138089756..138089774hg38UCSC Ensembl
Innerchr4:138089758..138089770hg38UCSC Ensembl
Outerchr4:138089742..138089788hg38UCSC Ensembl
chr4:139010910..139010928hg19UCSC Ensembl
Innerchr4:139010912..139010924hg19UCSC Ensembl
Outerchr4:139010896..139010942hg19UCSC Ensembl
chr4:139230360..139230378hg18UCSC Ensembl
Innerchr4:139230374..139230362hg18UCSC Ensembl
Outerchr4:139230346..139230392hg18UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38260
hg19260
hg18260
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3371114
Supporting Variants
SamplesNA18577
Known GenesLINC00616, SLC7A11-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8921393
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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