A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15472444



Internal ID6960406
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638565
Supporting Variants
SamplesNA21137
Known GenesPHKB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15472444
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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