A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618864



Internal ID6659058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:131907306..131908236hg38UCSC Ensembl
Innerchr8:131907317..131908225hg38UCSC Ensembl
Outerchr8:131907295..131908247hg38UCSC Ensembl
chr8:132919553..132920483hg19UCSC Ensembl
Innerchr8:132919564..132920472hg19UCSC Ensembl
Outerchr8:132919542..132920494hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38931
hg19931
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13334226
SamplesNA19779
Known GenesEFR3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618864
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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