A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3424387



Internal ID14924658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:24507696..24507696hg38UCSC Ensembl
Innerchr8:24507695..24507697hg38UCSC Ensembl
Outerchr8:24507646..24507746hg38UCSC Ensembl
chr8:24365209..24365209hg19UCSC Ensembl
Innerchr8:24365208..24365210hg19UCSC Ensembl
Outerchr8:24365159..24365259hg19UCSC Ensembl
chr8:24421099..24421099hg18UCSC Ensembl
Innerchr8:24421100..24421098hg18UCSC Ensembl
Outerchr8:24421049..24421149hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38372
hg19372
hg18372
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8653550, essv8653549, essv8653551
SamplesNA12892, NA12891, NA12878
Known GenesADAM7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3424387
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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