A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13593285



Internal ID3595101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:105729512..105732737hg38UCSC Ensembl
Innerchr9:105729512..105732737hg38UCSC Ensembl
Outerchr9:105729328..105732940hg38UCSC Ensembl
chr9:108491793..108495018hg19UCSC Ensembl
Innerchr9:108491793..108495018hg19UCSC Ensembl
Outerchr9:108491609..108495221hg19UCSC Ensembl
Cytoband9q31.2
Allele length
AssemblyAllele length
hg383226
hg193226
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621363
Supporting Variants
SamplesNA19317
Known GenesTMEM38B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13593285
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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