A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667281



Internal ID9933386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:8600791..8602478hg38UCSC Ensembl
Outerchr19:8600634..8602631hg38UCSC Ensembl
Innerchr19:8665675..8667362hg19UCSC Ensembl
Outerchr19:8665518..8667515hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381998
hg191998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6284522
SamplesHG00513
Known GenesADAMTS10
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667281
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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