A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15528317



Internal ID2748564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:77339100..77339907hg38UCSC Ensembl
Innerchr16:77339106..77339901hg38UCSC Ensembl
Outerchr16:77339094..77339913hg38UCSC Ensembl
chr16:77372997..77373804hg19UCSC Ensembl
Innerchr16:77373003..77373798hg19UCSC Ensembl
Outerchr16:77372991..77373810hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38808
hg19808
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639166
Supporting Variants
SamplesHG02419
Known GenesADAMTS18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15528317
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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