A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664173



Internal ID9583592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160235187..160235792hg38UCSC Ensembl
chr1:160204977..160205582hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg38606
hg19606
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5520755, essv5808542, essv6062132, essv6516205, essv5698751, essv6574979, essv6353264, essv5636644, essv5670274, essv6271288
SamplesNA19381, NA19313, NA19471, NA18520, NA18853, NA19395, NA19334, NA20281, NA19398, NA19900
Known GenesDCAF8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664173
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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