A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15483340



Internal ID4470827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56792087..56794292hg38UCSC Ensembl
Innerchr16:56792108..56794272hg38UCSC Ensembl
Outerchr16:56792067..56794313hg38UCSC Ensembl
chr16:56825999..56828204hg19UCSC Ensembl
Innerchr16:56826020..56828184hg19UCSC Ensembl
Outerchr16:56825979..56828225hg19UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg382206
hg192206
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638706
Supporting Variants
SamplesHG03973
Known GenesNUP93
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15483340
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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