A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663270



Internal ID9582689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14804467..14812142hg38UCSC Ensembl
chr19:14915279..14922954hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg387676
hg197676
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5790694, essv6597910, essv5581895, essv5621414
SamplesNA19393, NA18868, NA19473, NA19311
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663270
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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