A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3425696



Internal ID14925967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39638371..39638399hg38UCSC Ensembl
Innerchr8:39638378..39638389hg38UCSC Ensembl
Outerchr8:39638353..39638417hg38UCSC Ensembl
chr8:39495890..39495918hg19UCSC Ensembl
Innerchr8:39495897..39495908hg19UCSC Ensembl
Outerchr8:39495872..39495936hg19UCSC Ensembl
chr8:39615047..39615075hg18UCSC Ensembl
Innerchr8:39615065..39615054hg18UCSC Ensembl
Outerchr8:39615029..39615093hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38191
hg19191
hg18191
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8939685, essv8939686, essv8939689, essv8939687, essv8939688, essv8939684, essv8939690
SamplesNA19093, NA19147, NA18508, NA19172, NA18498, NA19138, NA18907
Known GenesADAM18
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3425696
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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