A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306601



Internal ID15153549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:51729625..51729626hg38UCSC Ensembl
Innerchr5:51729603..51729648hg38UCSC Ensembl
Outerchr5:51729602..51729649hg38UCSC Ensembl
chr5:51025459..51025460hg19UCSC Ensembl
Innerchr5:51025437..51025482hg19UCSC Ensembl
Outerchr5:51025436..51025483hg19UCSC Ensembl
chr5:51061216..51061217hg18UCSC Ensembl
Innerchr5:51061239..51061194hg18UCSC Ensembl
Outerchr5:51061193..51061240hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38219
hg19219
hg18219
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7765061
SamplesNA12812
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306601
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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