A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621363



Internal ID6661542
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13593282, essv13593274, essv13593277, essv13593284, essv13593285, essv13593281, essv13593280, essv13593283, essv13593276, essv13593278, essv13593279, essv13593275
SamplesNA18647, NA18606, HG00589, NA19315, HG00534, NA19317, NA18747, NA19070, HG02345, HG00531, HG02081, HG00580
Known GenesTMEM38B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621363
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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