A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689802



Internal ID15095770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:80443856..80446054hg38UCSC Ensembl
Innerchr15:80444856..80445054hg38UCSC Ensembl
Outerchr15:80442856..80447054hg38UCSC Ensembl
chr15:80736197..80738395hg19UCSC Ensembl
Innerchr15:80737197..80737395hg19UCSC Ensembl
Outerchr15:80735197..80739395hg19UCSC Ensembl
chr15:78523252..78525450hg18UCSC Ensembl
Innerchr15:78524252..78524450hg18UCSC Ensembl
Outerchr15:78522252..78526450hg18UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3365028
Supporting Variants
SamplesNA19240
Known GenesARNT2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689802
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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