A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13619355



Internal ID5002637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:126016054..126020537hg38UCSC Ensembl
Innerchr9:126016066..126020526hg38UCSC Ensembl
Outerchr9:126016043..126020549hg38UCSC Ensembl
chr9:128778333..128782816hg19UCSC Ensembl
Innerchr9:128778345..128782805hg19UCSC Ensembl
Outerchr9:128778322..128782828hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg384484
hg194484
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621759
Supporting Variants
SamplesNA18504
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13619355
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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