A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618250



Internal ID7005132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:103396290..103398675hg38UCSC Ensembl
Innerchr8:103396340..103398625hg38UCSC Ensembl
Outerchr8:103396240..103398725hg38UCSC Ensembl
chr8:104408518..104410903hg19UCSC Ensembl
Innerchr8:104408568..104410853hg19UCSC Ensembl
Outerchr8:104408468..104410953hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg382386
hg192386
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13271442
SamplesNA18499
Known GenesSLC25A32
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618250
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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