A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638606



Internal ID7025391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:50429129..50466859hg38UCSC Ensembl
Innerchr16:50429279..50466709hg38UCSC Ensembl
Outerchr16:50428979..50467009hg38UCSC Ensembl
chr16:50463040..50500770hg19UCSC Ensembl
Innerchr16:50463190..50500620hg19UCSC Ensembl
Outerchr16:50462890..50500920hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3837731
hg1937731
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv519e214
Supporting Variantsessv15475619, essv15475620
SamplesNA19055, NA12489
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638606
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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