A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15398498



Internal ID5400314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:19001575..19004820hg38UCSC Ensembl
Innerchr16:19001625..19004770hg38UCSC Ensembl
Outerchr16:19001515..19004880hg38UCSC Ensembl
chr16:19012897..19016142hg19UCSC Ensembl
Innerchr16:19012947..19016092hg19UCSC Ensembl
Outerchr16:19012837..19016202hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg383246
hg193246
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638119
Supporting Variants
SamplesNA19007
Known GenesTMC7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15398498
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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