A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3619132



Internal ID6659324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144556604..144557644hg38UCSC Ensembl
Innerchr8:144556630..144557618hg38UCSC Ensembl
Outerchr8:144556578..144557670hg38UCSC Ensembl
chr8:145781988..145783028hg19UCSC Ensembl
Innerchr8:145782014..145783002hg19UCSC Ensembl
Outerchr8:145781962..145783054hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381041
hg191041
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13369086, essv13369101, essv13369099, essv13369092, essv13369088, essv13369093, essv13369096, essv13369097, essv13369087, essv13369091, essv13369100, essv13369090, essv13369084, essv13369089, essv13369098, essv13369094, essv13369083, essv13369102, essv13369085, essv13369095
SamplesNA18616, HG00978, NA19331, HG00701, HG00404, HG00593, NA18957, NA19057, HG00403, HG00524, HG00534, HG00599, NA18974, HG00674, HG02026, HG00443, HG02067, NA19717, HG00693, HG00476
Known GenesARHGAP39
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3619132
Frequency
Sample Size2504
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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