A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637553



Internal ID6677657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:196592..198757hg38UCSC Ensembl
Innerchr16:196613..198737hg38UCSC Ensembl
Outerchr16:196572..198778hg38UCSC Ensembl
chr16:246591..248756hg19UCSC Ensembl
Innerchr16:246612..248736hg19UCSC Ensembl
Outerchr16:246571..248777hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg382166
hg192166
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15355141
SamplesNA19385
Known GenesLUC7L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637553
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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