A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16173503



Internal ID6175319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:31767457..31768323hg38UCSC Ensembl
Innerchr20:31767508..31768273hg38UCSC Ensembl
Outerchr20:31767407..31768374hg38UCSC Ensembl
chr20:30355260..30356126hg19UCSC Ensembl
Innerchr20:30355311..30356076hg19UCSC Ensembl
Outerchr20:30355210..30356177hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38867
hg19867
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645656
Supporting Variants
SamplesHG01086
Known GenesTPX2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16173503
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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