A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7753935



Internal ID14342198
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 StatusS
Merged Variantsesv3307181
Supporting Variants
SamplesNA18853
Known GenesTRPC7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7753935
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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