A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673332



Internal ID9592751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:26373485..26380358hg38UCSC Ensembl
chr6:26373713..26380586hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg386874
hg196874
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5999115, essv6391082
SamplesNA19313, NA19474
Known GenesBTN3A2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673332
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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