A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3349053



Internal ID14849318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:85344162..85344162hg38UCSC Ensembl
Innerchr8:85344161..85344163hg38UCSC Ensembl
Outerchr8:85344102..85344212hg38UCSC Ensembl
chr8:86256391..86256391hg19UCSC Ensembl
Innerchr8:86256390..86256392hg19UCSC Ensembl
Outerchr8:86256331..86256441hg19UCSC Ensembl
chr8:86443643..86443643hg18UCSC Ensembl
Innerchr8:86443644..86443642hg18UCSC Ensembl
Outerchr8:86443583..86443693hg18UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg3875
hg1975
hg1875
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8842704
SamplesNA12878
Known GenesCA1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3349053
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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