A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13606945



Internal ID864432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:114188950..114191027hg38UCSC Ensembl
Innerchr9:114188962..114191016hg38UCSC Ensembl
Outerchr9:114188939..114191039hg38UCSC Ensembl
chr9:116951230..116953307hg19UCSC Ensembl
Innerchr9:116951242..116953296hg19UCSC Ensembl
Outerchr9:116951219..116953319hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg382078
hg192078
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621553
Supporting Variants
SamplesHG00452
Known GenesCOL27A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13606945
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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