A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5514416



Internal ID8491819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51874769..51880808hg38UCSC Ensembl
chr6:51739567..51745606hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg386040
hg196040
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2657311
Supporting Variants
SamplesHG00252
Known GenesPKHD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5514416
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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