A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8675761



Internal ID15047597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:117427385..117427393hg38UCSC Ensembl
Innerchr5:117427377..117427399hg38UCSC Ensembl
Outerchr5:117427369..117427409hg38UCSC Ensembl
chr5:116763081..116763089hg19UCSC Ensembl
Innerchr5:116763073..116763095hg19UCSC Ensembl
Outerchr5:116763065..116763105hg19UCSC Ensembl
chr5:116790980..116790988hg18UCSC Ensembl
Innerchr5:116790994..116790972hg18UCSC Ensembl
Outerchr5:116790964..116791004hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38238
hg19238
hg18238
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3413448
Supporting Variants
SamplesNA19239
Known GenesLINC00992
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8675761
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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