A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670526



Internal ID9589945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48891047..48916619hg38UCSC Ensembl
Outerchr19:48891010..48916669hg38UCSC Ensembl
Innerchr19:49394304..49419876hg19UCSC Ensembl
Outerchr19:49394267..49419926hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3825660
hg1925660
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5441174
SamplesHG00327
Known GenesNUCB1, TULP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670526
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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