A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637554



Internal ID6677658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:198244..207164hg38UCSC Ensembl
Innerchr16:198394..207014hg38UCSC Ensembl
Outerchr16:198094..207314hg38UCSC Ensembl
chr16:248243..257163hg19UCSC Ensembl
Innerchr16:248393..257013hg19UCSC Ensembl
Outerchr16:248093..257313hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg388921
hg198921
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15355142
SamplesHG00593
Known GenesLUC7L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637554
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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