A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3358480



Internal ID15205459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:73037319..73037338hg38UCSC Ensembl
Innerchr5:73037315..73037342hg38UCSC Ensembl
Outerchr5:73037296..73037361hg38UCSC Ensembl
chr5:72333146..72333165hg19UCSC Ensembl
Innerchr5:72333142..72333169hg19UCSC Ensembl
Outerchr5:72333123..72333188hg19UCSC Ensembl
chr5:72368902..72368921hg18UCSC Ensembl
Innerchr5:72368925..72368898hg18UCSC Ensembl
Outerchr5:72368879..72368944hg18UCSC Ensembl
Cytoband5q13.2
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 Variantsessv9622758, essv9622747, essv9622769, essv9622781
SamplesNA07346, NA12234, NA11840, NA12873
Known GenesFCHO2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3358480
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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