A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307181



Internal ID15154129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:136225528..136225529hg38UCSC Ensembl
Innerchr5:136225499..136225558hg38UCSC Ensembl
Outerchr5:136225498..136225559hg38UCSC Ensembl
chr5:135561216..135561217hg19UCSC Ensembl
Innerchr5:135561187..135561246hg19UCSC Ensembl
Outerchr5:135561186..135561247hg19UCSC Ensembl
chr5:135589115..135589116hg18UCSC Ensembl
Innerchr5:135589145..135589086hg18UCSC Ensembl
Outerchr5:135589085..135589146hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38269
hg19269
hg18269
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7749848, essv7753935, essv7755472, essv7744530
SamplesNA18498, NA18853, NA19108, NA19093
Known GenesTRPC7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307181
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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