A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659174



Internal ID9925279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:9163721..9173769hg38UCSC Ensembl
chr19:9274397..9284445hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3810049
hg1910049
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv622e199
Supporting Variantsessv5482198, essv6301890, essv5685701
SamplesHG00243, NA18544, HG01148
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659174
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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