A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13238449



Internal ID3240265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:79629329..79635828hg38UCSC Ensembl
Innerchr8:79629329..79635828hg38UCSC Ensembl
Outerchr8:79628829..79636328hg38UCSC Ensembl
chr8:80541564..80548063hg19UCSC Ensembl
Innerchr8:80541564..80548063hg19UCSC Ensembl
Outerchr8:80541064..80548563hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg386500
hg196500
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617760
Supporting Variants
SamplesNA19327
Known GenesSTMN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13238449
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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