A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3398732



Internal ID15245695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:181448645..181450443hg38UCSC Ensembl
Innerchr5:181449443..181449645hg38UCSC Ensembl
Outerchr5:181447645..181451443hg38UCSC Ensembl
chr5:180875646..180877444hg19UCSC Ensembl
Innerchr5:180876444..180876646hg19UCSC Ensembl
Outerchr5:180874646..180878444hg19UCSC Ensembl
chr5:180808252..180810050hg18UCSC Ensembl
Innerchr5:180809252..180809050hg18UCSC Ensembl
Outerchr5:180807252..180811050hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3433e59
Supporting Variantsessv8694687
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3398732
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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