A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15404972



Internal ID5616415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:20554911..20571358hg38UCSC Ensembl
Innerchr16:20554911..20571358hg38UCSC Ensembl
Outerchr16:20554411..20571858hg38UCSC Ensembl
chr16:20566233..20582680hg19UCSC Ensembl
Innerchr16:20566233..20582680hg19UCSC Ensembl
Outerchr16:20565733..20583180hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3816448
hg1916448
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638149
Supporting Variants
SamplesNA19042
Known GenesACSM2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15404972
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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