A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15305127



Internal ID5306943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:80160974..80169733hg38UCSC Ensembl
Innerchr15:80160974..80169733hg38UCSC Ensembl
Outerchr15:80160715..80169953hg38UCSC Ensembl
chr15:80453316..80462075hg19UCSC Ensembl
Innerchr15:80453316..80462075hg19UCSC Ensembl
Outerchr15:80453057..80462295hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg388760
hg198760
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637014
Supporting Variants
SamplesNA18558
Known GenesFAH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15305127
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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