A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660249



Internal ID9579668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45087096..45088197hg38UCSC Ensembl
chr19:45590354..45591455hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381102
hg191102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5511181, essv5965591, essv5879267
SamplesNA19461, NA19316, NA19312
Known GenesGEMIN7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660249
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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