A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8923308



Internal ID14773182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:9627357..9627403hg38UCSC Ensembl
Innerchr5:9627373..9627385hg38UCSC Ensembl
Outerchr5:9627327..9627431hg38UCSC Ensembl
chr5:9627469..9627515hg19UCSC Ensembl
Innerchr5:9627485..9627497hg19UCSC Ensembl
Outerchr5:9627439..9627543hg19UCSC Ensembl
chr5:9680469..9680515hg18UCSC Ensembl
Innerchr5:9680497..9680485hg18UCSC Ensembl
Outerchr5:9680439..9680543hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38276
hg19276
hg18276
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3424204
Supporting Variants
SamplesNA19257
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8923308
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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