A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13574357



Internal ID2532643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:98234964..98235791hg38UCSC Ensembl
Innerchr9:98234996..98235759hg38UCSC Ensembl
Outerchr9:98234932..98235823hg38UCSC Ensembl
chr9:100997246..100998073hg19UCSC Ensembl
Innerchr9:100997278..100998041hg19UCSC Ensembl
Outerchr9:100997214..100998105hg19UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg38828
hg19828
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621207
Supporting Variants
SamplesHG02252
Known GenesTBC1D2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13574357
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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