A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639314



Internal ID7026097
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15535916
SamplesHG02952
Known GenesPKD1L2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639314
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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