A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13317963



Internal ID1685196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:126408810..126416647hg38UCSC Ensembl
Innerchr8:126408821..126416636hg38UCSC Ensembl
Outerchr8:126408799..126416658hg38UCSC Ensembl
chr8:127421055..127428892hg19UCSC Ensembl
Innerchr8:127421066..127428881hg19UCSC Ensembl
Outerchr8:127421044..127428903hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg387838
hg197838
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618745
Supporting Variants
SamplesHG01556
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13317963
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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