A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13132633



Internal ID548887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:20919215..20920926hg38UCSC Ensembl
Innerchr8:20919315..20920826hg38UCSC Ensembl
Outerchr8:20919115..20921026hg38UCSC Ensembl
chr8:20776726..20778437hg19UCSC Ensembl
Innerchr8:20776826..20778337hg19UCSC Ensembl
Outerchr8:20776626..20778537hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg381712
hg191712
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616584
Supporting Variants
SamplesHG00239
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13132633
Frequency
Sample Size2504
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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