A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13153107



Internal ID2383619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27925307..27927225hg38UCSC Ensembl
Innerchr8:27925357..27927175hg38UCSC Ensembl
Outerchr8:27925257..27927275hg38UCSC Ensembl
chr8:27782824..27784742hg19UCSC Ensembl
Innerchr8:27782874..27784692hg19UCSC Ensembl
Outerchr8:27782774..27784792hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg381919
hg191919
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616729
Supporting Variants
SamplesHG02111
Known GenesSCARA5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13153107
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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