A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665713



Internal ID9931818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130351823..130356739hg38UCSC Ensembl
chr3:130070666..130075582hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg384917
hg194917
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6322680
SamplesNA19437
Known GenesCOL6A5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665713
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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