A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9621914



Internal ID13258060
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 StatusS
Merged Variantsesv3431395
Supporting Variants
SamplesNA12814
Known GenesGHR
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9621914
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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