A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695001



Internal ID15049943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:95837692..95839190hg38UCSC Ensembl
Innerchr5:95838190..95838692hg38UCSC Ensembl
Outerchr5:95836692..95840190hg38UCSC Ensembl
chr5:95173396..95174894hg19UCSC Ensembl
Innerchr5:95173894..95174396hg19UCSC Ensembl
Outerchr5:95172396..95175894hg19UCSC Ensembl
chr5:95199152..95200650hg18UCSC Ensembl
Innerchr5:95200152..95199650hg18UCSC Ensembl
Outerchr5:95198152..95201650hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3425626
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695001
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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