A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669587



Internal ID9935692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3331352..3336080hg38UCSC Ensembl
chr6:3331586..3336314hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg384729
hg194729
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6084572, essv6098717, essv6465370
SamplesNA19076, HG00475, NA18637
Known GenesSLC22A23
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669587
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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