A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638565



Internal ID7025350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47557239..47601756hg38UCSC Ensembl
Innerchr16:47557239..47601756hg38UCSC Ensembl
Outerchr16:47556739..47602256hg38UCSC Ensembl
chr16:47591150..47635667hg19UCSC Ensembl
Innerchr16:47591150..47635667hg19UCSC Ensembl
Outerchr16:47590650..47636167hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3844518
hg1944518
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15472443, essv15472444
SamplesNA21137, NA21128
Known GenesPHKB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638565
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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