A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15535468



Internal ID712828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:80833783..80959542hg38UCSC Ensembl
Innerchr16:80833792..80959533hg38UCSC Ensembl
Outerchr16:80833774..80959551hg38UCSC Ensembl
chr16:80867680..80993439hg19UCSC Ensembl
Innerchr16:80867689..80993430hg19UCSC Ensembl
Outerchr16:80867671..80993448hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg38125760
hg19125760
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639289
Supporting Variants
SamplesHG00335
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15535468
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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