A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3619128



Internal ID7006008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144492556..144495696hg38UCSC Ensembl
Innerchr8:144492561..144495691hg38UCSC Ensembl
Outerchr8:144492551..144495701hg38UCSC Ensembl
chr8:145717939..145721079hg19UCSC Ensembl
Innerchr8:145717944..145721074hg19UCSC Ensembl
Outerchr8:145717934..145721084hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg383141
hg193141
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13369035, essv13369029, essv13369036, essv13369027, essv13369032, essv13369031, essv13369028, essv13369033, essv13369034, essv13369030
SamplesHG00115, NA20808, NA12283, NA12287, NA20910, NA12342, NA20505, HG03974, NA12716, NA19074
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3619128
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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