A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8924289



Internal ID14916039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:51400107..51400119hg38UCSC Ensembl
Innerchr5:51400098..51400125hg38UCSC Ensembl
Outerchr5:51400086..51400137hg38UCSC Ensembl
chr5:50695941..50695953hg19UCSC Ensembl
Innerchr5:50695932..50695959hg19UCSC Ensembl
Outerchr5:50695920..50695971hg19UCSC Ensembl
chr5:50731698..50731710hg18UCSC Ensembl
Innerchr5:50731716..50731689hg18UCSC Ensembl
Outerchr5:50731677..50731728hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg38287
hg19287
hg18287
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3341286
Supporting Variants
SamplesNA19147
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8924289
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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