A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3359968



Internal ID15206947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150978307..150978326hg38UCSC Ensembl
Innerchr5:150978303..150978330hg38UCSC Ensembl
Outerchr5:150978284..150978349hg38UCSC Ensembl
chr5:150357869..150357888hg19UCSC Ensembl
Innerchr5:150357865..150357892hg19UCSC Ensembl
Outerchr5:150357846..150357911hg19UCSC Ensembl
chr5:150338062..150338081hg18UCSC Ensembl
Innerchr5:150338085..150338058hg18UCSC Ensembl
Outerchr5:150338039..150338104hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8678956
SamplesNA19240
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3359968
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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