A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694763



Internal ID13294167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:344337..344735hg38UCSC Ensembl
Innerchr5:344336..344736hg38UCSC Ensembl
Outerchr5:343337..345735hg38UCSC Ensembl
chr5:344452..344850hg19UCSC Ensembl
Innerchr5:344451..344851hg19UCSC Ensembl
Outerchr5:343452..345850hg19UCSC Ensembl
chr5:397452..397850hg18UCSC Ensembl
Innerchr5:397851..397451hg18UCSC Ensembl
Outerchr5:396452..398850hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38399
hg19399
hg18399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3340684
Supporting Variants
SamplesNA12878
Known GenesAHRR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694763
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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