A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666494



Internal ID9932599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51504234..51506212hg38UCSC Ensembl
chr6:51369032..51371010hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg381979
hg191979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6529395, essv5825113, essv5513908
SamplesNA12750, HG00136, NA20503
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666494
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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