A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3449759



Internal ID15296707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139643283..139645881hg38UCSC Ensembl
Innerchr5:139644283..139644881hg38UCSC Ensembl
Outerchr5:139642283..139646881hg38UCSC Ensembl
chr5:139022868..139025466hg19UCSC Ensembl
Innerchr5:139023868..139024466hg19UCSC Ensembl
Outerchr5:139021868..139026466hg19UCSC Ensembl
chr5:139003052..139005650hg18UCSC Ensembl
Innerchr5:139004052..139004650hg18UCSC Ensembl
Outerchr5:139002052..139006650hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg382599
hg192599
hg182599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694583
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3449759
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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