A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7837835



Internal ID13720476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:128286081..128286082hg38UCSC Ensembl
Innerchr4:128286046..128286117hg38UCSC Ensembl
Outerchr4:128286045..128286118hg38UCSC Ensembl
chr4:129207236..129207237hg19UCSC Ensembl
Innerchr4:129207201..129207272hg19UCSC Ensembl
Outerchr4:129207200..129207273hg19UCSC Ensembl
chr4:129426686..129426687hg18UCSC Ensembl
Innerchr4:129426722..129426651hg18UCSC Ensembl
Outerchr4:129426650..129426723hg18UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38238
hg19238
hg18238
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3310213
Supporting Variants
SamplesNA12892
Known GenesPGRMC2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7837835
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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