A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15501422



Internal ID4945072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67263072..67263487hg38UCSC Ensembl
Innerchr16:67263073..67263487hg38UCSC Ensembl
Outerchr16:67263072..67263488hg38UCSC Ensembl
chr16:67296975..67297390hg19UCSC Ensembl
Innerchr16:67296976..67297390hg19UCSC Ensembl
Outerchr16:67296975..67297391hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38416
hg19416
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638882
Supporting Variants
SamplesNA12813
Known GenesSLC9A5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15501422
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer