A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8925621



Internal ID14959883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:92638228..92638265hg38UCSC Ensembl
Innerchr5:92638246..92638247hg38UCSC Ensembl
Outerchr5:92638210..92638283hg38UCSC Ensembl
chr5:91973935..91973972hg19UCSC Ensembl
Innerchr5:91973953..91973954hg19UCSC Ensembl
Outerchr5:91973917..91973990hg19UCSC Ensembl
chr5:91999691..91999728hg18UCSC Ensembl
Innerchr5:91999709..91999710hg18UCSC Ensembl
Outerchr5:91999673..91999746hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38256
hg19256
hg18256
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3347339
Supporting Variants
SamplesNA19190
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8925621
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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