A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv510e199



Internal ID22758283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81120968..81123769hg38UCSC Ensembl
chr16:81154573..81157374hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg382802
hg192802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2677702, esv2658199
SamplesNA18561
Known GenesPKD1L2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv510e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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