A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13573479



Internal ID869155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:96932909..96985176hg38UCSC Ensembl
Innerchr9:96933409..96984676hg38UCSC Ensembl
Outerchr9:96931909..96986176hg38UCSC Ensembl
chr9:99695191..99747458hg19UCSC Ensembl
Innerchr9:99695691..99746958hg19UCSC Ensembl
Outerchr9:99694191..99748458hg19UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg3852268
hg1952268
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621176
Supporting Variants
SamplesHG00458
Known GenesHIATL2, NUTM2G
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13573479
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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