A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3431395



Internal ID14931665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42625752..42625771hg38UCSC Ensembl
Innerchr5:42625748..42625775hg38UCSC Ensembl
Outerchr5:42625729..42625794hg38UCSC Ensembl
chr5:42625854..42625873hg19UCSC Ensembl
Innerchr5:42625850..42625877hg19UCSC Ensembl
Outerchr5:42625831..42625896hg19UCSC Ensembl
chr5:42661611..42661630hg18UCSC Ensembl
Innerchr5:42661634..42661607hg18UCSC Ensembl
Outerchr5:42661588..42661653hg18UCSC Ensembl
Cytoband5p12
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 Variantsessv9621914, essv9621936, essv9621925
SamplesNA11840, NA12814, NA12045
Known GenesGHR
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3431395
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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