A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15304750



Internal ID5306566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:79898247..79960449hg38UCSC Ensembl
Innerchr15:79898747..79959949hg38UCSC Ensembl
Outerchr15:79897247..79961449hg38UCSC Ensembl
chr15:80190589..80252791hg19UCSC Ensembl
Innerchr15:80191089..80252291hg19UCSC Ensembl
Outerchr15:80189589..80253791hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg3862203
hg1962203
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637009
Supporting Variants
SamplesNA18627
Known GenesC15orf37, ST20, ST20-MTHFS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15304750
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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