A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638566



Internal ID7025351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47623805..47627724hg38UCSC Ensembl
Innerchr16:47623805..47627724hg38UCSC Ensembl
Outerchr16:47623750..47627801hg38UCSC Ensembl
chr16:47657716..47661635hg19UCSC Ensembl
Innerchr16:47657716..47661635hg19UCSC Ensembl
Outerchr16:47657661..47661712hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg383920
hg193920
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15472445, essv15472446, essv15472447
SamplesNA21137, NA21128, HG02075
Known GenesPHKB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638566
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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