A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672818



Internal ID9938923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:43750091..43761100hg38UCSC Ensembl
chr11:43771641..43782650hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3811010
hg1911010
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6212699, essv5967330, essv6282088
SamplesNA19789, NA19685, NA19661
Known GenesHSD17B12
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672818
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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