A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666056



Internal ID9932161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:101802363..101802922hg38UCSC Ensembl
chr3:101521207..101521766hg19UCSC Ensembl
Cytoband3q12.3
Allele length
AssemblyAllele length
hg38560
hg19560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6521489, essv5674300, essv6181932, essv5671937, essv5433724, essv6444104, essv5621070
SamplesNA18489, NA18520, NA19982, NA18871, NA19114, NA19435, NA19713
Known GenesNXPE3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666056
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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