A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15304749



Internal ID5306565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:79874155..79879033hg38UCSC Ensembl
Innerchr15:79874156..79879032hg38UCSC Ensembl
Outerchr15:79874154..79879034hg38UCSC Ensembl
chr15:80166497..80171375hg19UCSC Ensembl
Innerchr15:80166498..80171374hg19UCSC Ensembl
Outerchr15:80166496..80171376hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg384879
hg194879
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637008
Supporting Variants
SamplesNA20826
Known GenesMTHFS, ST20-MTHFS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15304749
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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