A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618609



Internal ID7005491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:120475079..120476637hg38UCSC Ensembl
Innerchr8:120475129..120476587hg38UCSC Ensembl
Outerchr8:120475005..120476711hg38UCSC Ensembl
chr8:121487319..121488877hg19UCSC Ensembl
Innerchr8:121487369..121488827hg19UCSC Ensembl
Outerchr8:121487245..121488951hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg381559
hg191559
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13304838, essv13304840, essv13304837, essv13304839
SamplesHG01528, NA11840, NA20522, HG01516
Known GenesMTBP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618609
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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