A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13208848



Internal ID3002696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:59670990..59677920hg38UCSC Ensembl
Innerchr8:59671490..59677420hg38UCSC Ensembl
Outerchr8:59669990..59678920hg38UCSC Ensembl
chr8:60583549..60590479hg19UCSC Ensembl
Innerchr8:60584049..60589979hg19UCSC Ensembl
Outerchr8:60582549..60591479hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg386931
hg196931
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617358
Supporting Variants
SamplesHG02648
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13208848
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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