A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667009



Internal ID9586428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:5810154..5810687hg38UCSC Ensembl
Outerchr19:5809997..5810840hg38UCSC Ensembl
Innerchr19:5810165..5810698hg19UCSC Ensembl
Outerchr19:5810008..5810851hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38844
hg19844
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6022709, essv6053474, essv6328793, essv6108779, essv5765092, essv6597389, essv6544588, essv6245747
SamplesHG00247, NA12275, HG00268, NA12718, HG01334, HG00123, NA20807, NA11843
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667009
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer