A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15530809



Internal ID537254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:79219778..79258687hg38UCSC Ensembl
Innerchr16:79220278..79258187hg38UCSC Ensembl
Outerchr16:79218778..79259687hg38UCSC Ensembl
chr16:79253675..79292584hg19UCSC Ensembl
Innerchr16:79254175..79292084hg19UCSC Ensembl
Outerchr16:79252675..79293584hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3838910
hg1938910
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639241
Supporting Variants
SamplesHG00234
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15530809
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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