A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15545795



Internal ID5526578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84091200..84098482hg38UCSC Ensembl
Innerchr16:84091209..84098474hg38UCSC Ensembl
Outerchr16:84091192..84098491hg38UCSC Ensembl
chr16:84124805..84132087hg19UCSC Ensembl
Innerchr16:84124814..84132079hg19UCSC Ensembl
Outerchr16:84124797..84132096hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg387283
hg197283
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639411
Supporting Variants
SamplesNA18995
Known GenesMBTPS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15545795
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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