A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3328379



Internal ID14828657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:112515382..112515401hg38UCSC Ensembl
Innerchr10:112515378..112515405hg38UCSC Ensembl
Outerchr10:112515359..112515424hg38UCSC Ensembl
chr10:114275141..114275160hg19UCSC Ensembl
Innerchr10:114275137..114275164hg19UCSC Ensembl
Outerchr10:114275118..114275183hg19UCSC Ensembl
chr10:114265131..114265150hg18UCSC Ensembl
Innerchr10:114265154..114265127hg18UCSC Ensembl
Outerchr10:114265108..114265173hg18UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9649646
SamplesNA19143
Known GenesVTI1A
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3328379
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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