A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639405



Internal ID6679498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83969606..84018131hg38UCSC Ensembl
Innerchr16:83969606..84018131hg38UCSC Ensembl
Outerchr16:83969106..84018631hg38UCSC Ensembl
chr16:84003211..84051736hg19UCSC Ensembl
Innerchr16:84003211..84051736hg19UCSC Ensembl
Outerchr16:84002711..84052236hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3848526
hg1948526
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15545753
SamplesHG01105
Known GenesNECAB2, SLC38A8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639405
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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