A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3395342



Internal ID15242306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:136225523..136225539hg38UCSC Ensembl
Innerchr5:136225525..136225535hg38UCSC Ensembl
Outerchr5:136225509..136225553hg38UCSC Ensembl
chr5:135561211..135561227hg19UCSC Ensembl
Innerchr5:135561213..135561223hg19UCSC Ensembl
Outerchr5:135561197..135561241hg19UCSC Ensembl
chr5:135589110..135589126hg18UCSC Ensembl
Innerchr5:135589122..135589112hg18UCSC Ensembl
Outerchr5:135589096..135589140hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38269
hg19269
hg18269
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8926751, essv8926752, essv8926753, essv8926754
SamplesNA18498, NA18853, NA19108, NA19093
Known GenesTRPC7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3395342
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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