A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13618632



Internal ID2125602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:123913672..123919238hg38UCSC Ensembl
Innerchr9:123913822..123919088hg38UCSC Ensembl
Outerchr9:123913522..123919388hg38UCSC Ensembl
chr9:126675951..126681517hg19UCSC Ensembl
Innerchr9:126676101..126681367hg19UCSC Ensembl
Outerchr9:126675801..126681667hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg385567
hg195567
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621704
Supporting Variants
SamplesHG01932
Known GenesDENND1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13618632
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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