A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658971



Internal ID9925076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:110930069..110935091hg38UCSC Ensembl
chr1:111472691..111477713hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg385023
hg195023
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5591507, essv6015668, essv6300253, essv5547349, essv6406661
SamplesHG00566, NA18635, HG00590, HG00419, HG00692
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658971
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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