A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15314278



Internal ID5316094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:85291627..85464874hg38UCSC Ensembl
Innerchr15:85291777..85464724hg38UCSC Ensembl
Outerchr15:85291477..85465024hg38UCSC Ensembl
chr15:85834858..86008105hg19UCSC Ensembl
Innerchr15:85835008..86007955hg19UCSC Ensembl
Outerchr15:85834708..86008255hg19UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg38173248
hg19173248
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637111
Supporting Variants
SamplesNA19917
Known GenesAKAP13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15314278
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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