A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3393443



Internal ID15240408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:29980387..29980393hg38UCSC Ensembl
Innerchr5:29980372..29980408hg38UCSC Ensembl
Outerchr5:29980366..29980414hg38UCSC Ensembl
chr5:29980494..29980500hg19UCSC Ensembl
Innerchr5:29980479..29980515hg19UCSC Ensembl
Outerchr5:29980473..29980521hg19UCSC Ensembl
chr5:30016251..30016257hg18UCSC Ensembl
Innerchr5:30016272..30016236hg18UCSC Ensembl
Outerchr5:30016230..30016278hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864435
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3393443
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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