A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15535916



Internal ID3312590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81137347..81237577hg38UCSC Ensembl
chr16:81170952..81271182hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg38100231
hg19100231
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639314
Supporting Variants
SamplesHG02952
Known GenesPKD1L2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15535916
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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