A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618251



Internal ID7005133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:103396326..103399891hg38UCSC Ensembl
Innerchr8:103396326..103399891hg38UCSC Ensembl
Outerchr8:103396206..103399985hg38UCSC Ensembl
chr8:104408554..104412119hg19UCSC Ensembl
Innerchr8:104408554..104412119hg19UCSC Ensembl
Outerchr8:104408434..104412213hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg383566
hg193566
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13271443
SamplesNA19717
Known GenesSLC25A32
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618251
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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