A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13527185



Internal ID3529001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:75908234..75909881hg38UCSC Ensembl
Innerchr9:75908245..75909870hg38UCSC Ensembl
Outerchr9:75908223..75909892hg38UCSC Ensembl
chr9:78523150..78524797hg19UCSC Ensembl
Innerchr9:78523161..78524786hg19UCSC Ensembl
Outerchr9:78523139..78524808hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg381648
hg191648
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3620732
Supporting Variants
SamplesNA18941
Known GenesPCSK5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13527185
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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