A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15441738



Internal ID4695390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29967685..29971010hg38UCSC Ensembl
Innerchr16:29967761..29970934hg38UCSC Ensembl
Outerchr16:29967609..29971086hg38UCSC Ensembl
chr16:29979006..29982331hg19UCSC Ensembl
Innerchr16:29979082..29982255hg19UCSC Ensembl
Outerchr16:29978930..29982407hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg383326
hg193326
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638377
Supporting Variants
SamplesHG04214
Known GenesTMEM219
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15441738
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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