A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14040178



Internal ID4041994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18029957..18032997hg38UCSC Ensembl
Innerchr11:18030007..18032947hg38UCSC Ensembl
Outerchr11:18029895..18033059hg38UCSC Ensembl
chr11:18051504..18054544hg19UCSC Ensembl
Innerchr11:18051554..18054494hg19UCSC Ensembl
Outerchr11:18051442..18054606hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg383041
hg193041
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625482
Supporting Variants
SamplesNA20359
Known GenesTPH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14040178
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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