A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304095



Internal ID15151043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:64561873..64561874hg38UCSC Ensembl
Innerchr5:64561829..64561918hg38UCSC Ensembl
Outerchr5:64561828..64561919hg38UCSC Ensembl
chr5:63857700..63857701hg19UCSC Ensembl
Innerchr5:63857656..63857745hg19UCSC Ensembl
Outerchr5:63857655..63857746hg19UCSC Ensembl
chr5:63893456..63893457hg18UCSC Ensembl
Innerchr5:63893501..63893412hg18UCSC Ensembl
Outerchr5:63893411..63893502hg18UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38155
hg19155
hg18155
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7749620, essv7761523, essv7743688, essv7746159
SamplesNA19238, NA18961, NA19240, NA19093
Known GenesRGS7BP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304095
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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