A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15552707



Internal ID2332262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:86473505..86474769hg38UCSC Ensembl
Innerchr16:86473522..86474753hg38UCSC Ensembl
Outerchr16:86473489..86474786hg38UCSC Ensembl
chr16:86507111..86508375hg19UCSC Ensembl
Innerchr16:86507128..86508359hg19UCSC Ensembl
Outerchr16:86507095..86508392hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg381265
hg191265
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639482
Supporting Variants
SamplesHG02075
Known GenesFENDRR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15552707
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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