A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15637127



Internal ID3455372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18340903..18344347hg38UCSC Ensembl
Innerchr17:18340938..18344313hg38UCSC Ensembl
Outerchr17:18340869..18344382hg38UCSC Ensembl
chr17:18244217..18247661hg19UCSC Ensembl
Innerchr17:18244252..18247627hg19UCSC Ensembl
Outerchr17:18244183..18247696hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg383445
hg193445
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640147
Supporting Variants
SamplesHG03079
Known GenesSHMT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15637127
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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