A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3426141



Internal ID15273098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:41717393..41717423hg38UCSC Ensembl
Innerchr4:41717405..41717409hg38UCSC Ensembl
Outerchr4:41717375..41717439hg38UCSC Ensembl
chr4:41719410..41719440hg19UCSC Ensembl
Innerchr4:41719422..41719426hg19UCSC Ensembl
Outerchr4:41719392..41719456hg19UCSC Ensembl
chr4:41414167..41414197hg18UCSC Ensembl
Innerchr4:41414183..41414179hg18UCSC Ensembl
Outerchr4:41414149..41414213hg18UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38158
hg19158
hg18158
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8675593
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3426141
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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