A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663825



Internal ID9583244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:22596324..22597649hg38UCSC Ensembl
Outerchr19:22596287..22597699hg38UCSC Ensembl
Innerchr19:22779126..22780451hg19UCSC Ensembl
Outerchr19:22779089..22780501hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg381413
hg191413
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5684867, essv6146777, essv6558508, essv6200006
SamplesNA19107, NA18519, NA18923, NA20344
Known GenesLOC440518
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663825
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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