A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657894



Internal ID9923999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12313393..12315464hg38UCSC Ensembl
chr19:12424207..12426278hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg382072
hg192072
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5599365, essv6211511
SamplesNA18951, NA18963
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657894
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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