A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12518366



Internal ID6906161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:118535896..118593919hg38UCSC Ensembl
chr6:118857059..118915082hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3858024
hg1958024
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610516
Supporting Variants
SamplesNA21112
Known GenesCEP85L, PLN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12518366
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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