A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741185



Internal ID15088006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:165354501..165354501hg38UCSC Ensembl
Innerchr5:165354500..165354502hg38UCSC Ensembl
Outerchr5:165354451..165354551hg38UCSC Ensembl
chr5:164781507..164781507hg19UCSC Ensembl
Innerchr5:164781506..164781508hg19UCSC Ensembl
Outerchr5:164781457..164781557hg19UCSC Ensembl
chr5:164714085..164714085hg18UCSC Ensembl
Innerchr5:164714086..164714084hg18UCSC Ensembl
Outerchr5:164714035..164714135hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38876
hg19876
hg18876
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3357646
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741185
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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