A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638320



Internal ID6678418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:27228393..27231435hg38UCSC Ensembl
Innerchr16:27228398..27231430hg38UCSC Ensembl
Outerchr16:27228388..27231440hg38UCSC Ensembl
chr16:27239714..27242756hg19UCSC Ensembl
Innerchr16:27239719..27242751hg19UCSC Ensembl
Outerchr16:27239709..27242761hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg383043
hg193043
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15439283, essv15439282
SamplesHG03593, HG03604
Known GenesNSMCE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638320
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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