A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8675942



Internal ID15049597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:51400103..51400123hg38UCSC Ensembl
Innerchr5:51400105..51400119hg38UCSC Ensembl
Outerchr5:51400085..51400139hg38UCSC Ensembl
chr5:50695937..50695957hg19UCSC Ensembl
Innerchr5:50695939..50695953hg19UCSC Ensembl
Outerchr5:50695919..50695973hg19UCSC Ensembl
chr5:50731694..50731714hg18UCSC Ensembl
Innerchr5:50731710..50731696hg18UCSC Ensembl
Outerchr5:50731676..50731730hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg38233
hg19233
hg18233
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3365577
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8675942
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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