A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13618672



Internal ID4567357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:124250533..124254956hg38UCSC Ensembl
Innerchr9:124250596..124254894hg38UCSC Ensembl
Outerchr9:124250471..124255019hg38UCSC Ensembl
chr9:127012812..127017235hg19UCSC Ensembl
Innerchr9:127012875..127017173hg19UCSC Ensembl
Outerchr9:127012750..127017298hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg384424
hg194424
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621718
Supporting Variants
SamplesHG04070
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13618672
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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