A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8924902



Internal ID13218712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:74317995..74318107hg38UCSC Ensembl
Innerchr5:74318001..74318098hg38UCSC Ensembl
Outerchr5:74317889..74318213hg38UCSC Ensembl
chr5:73613820..73613932hg19UCSC Ensembl
Innerchr5:73613826..73613923hg19UCSC Ensembl
Outerchr5:73613714..73614038hg19UCSC Ensembl
chr5:73649576..73649688hg18UCSC Ensembl
Innerchr5:73649679..73649582hg18UCSC Ensembl
Outerchr5:73649470..73649794hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3398155
Supporting Variants
SamplesNA11931
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8924902
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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