A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676221



Internal ID2909308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:162313496..162323202hg38UCSC Ensembl
chr6:162734528..162744234hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg389707
hg199707
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5909783, essv5768287, essv5929009, essv5725364
SamplesNA18534, HG00479, NA18537, NA18565
Known GenesPARK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676221
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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