A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7742830



Internal ID13230888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:69696078..69696079hg38UCSC Ensembl
Innerchr13:69696047..69696110hg38UCSC Ensembl
Outerchr13:69696046..69696111hg38UCSC Ensembl
chr13:70270210..70270211hg19UCSC Ensembl
Innerchr13:70270179..70270242hg19UCSC Ensembl
Outerchr13:70270178..70270243hg19UCSC Ensembl
chr13:69168211..69168212hg18UCSC Ensembl
Innerchr13:69168243..69168180hg18UCSC Ensembl
Outerchr13:69168179..69168244hg18UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38271
hg19271
hg18271
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3304929
Supporting Variants
SamplesNA11992
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7742830
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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