A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6212699



Internal ID9795245
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 Flag1
Merged StatusS
Merged Variantsesv2672818
Supporting Variants
SamplesNA19789
Known GenesHSD17B12
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6212699
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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