A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13304840



Internal ID6477268
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618609
Supporting Variants
SamplesNA20522
Known GenesMTBP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13304840
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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