A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9625347



Internal ID13616966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:161631715..161631734hg38UCSC Ensembl
Innerchr5:161631711..161631738hg38UCSC Ensembl
Outerchr5:161631692..161631757hg38UCSC Ensembl
chr5:161058721..161058740hg19UCSC Ensembl
Innerchr5:161058717..161058744hg19UCSC Ensembl
Outerchr5:161058698..161058763hg19UCSC Ensembl
chr5:160991299..160991318hg18UCSC Ensembl
Innerchr5:160991322..160991295hg18UCSC Ensembl
Outerchr5:160991276..160991341hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3447765
Supporting Variants
SamplesNA12872
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9625347
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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