A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3389910



Internal ID14890191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138252164..138254262hg38UCSC Ensembl
Innerchr5:138253164..138253262hg38UCSC Ensembl
Outerchr5:138251164..138255262hg38UCSC Ensembl
chr5:137587853..137589951hg19UCSC Ensembl
Innerchr5:137588853..137588951hg19UCSC Ensembl
Outerchr5:137586853..137590951hg19UCSC Ensembl
chr5:137615752..137617850hg18UCSC Ensembl
Innerchr5:137616752..137616850hg18UCSC Ensembl
Outerchr5:137614752..137618850hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694581
SamplesNA19239
Known GenesGFRA3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3389910
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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