A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639166



Internal ID7025949
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15528319, essv15528322, essv15528321, essv15528317, essv15528318, essv15528320, essv15528316
SamplesHG02419, NA20795, HG04047, HG03780, NA12342, HG00146, NA21104
Known GenesADAMTS18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639166
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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