A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618610



Internal ID6658804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:120480325..120482331hg38UCSC Ensembl
Innerchr8:120480372..120482285hg38UCSC Ensembl
Outerchr8:120480279..120482378hg38UCSC Ensembl
chr8:121492565..121494571hg19UCSC Ensembl
Innerchr8:121492612..121494525hg19UCSC Ensembl
Outerchr8:121492519..121494618hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg382007
hg192007
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13304841
SamplesNA18558
Known GenesMTBP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618610
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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