A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13606700



Internal ID3608516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:113156472..113160673hg38UCSC Ensembl
Innerchr9:113156516..113160630hg38UCSC Ensembl
Outerchr9:113156429..113160717hg38UCSC Ensembl
chr9:115918752..115922953hg19UCSC Ensembl
Innerchr9:115918796..115922910hg19UCSC Ensembl
Outerchr9:115918709..115922997hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg384202
hg194202
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621538
Supporting Variants
SamplesHG02768
Known GenesSLC31A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13606700
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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