A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7736118



Internal ID14466022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:13653895..13653896hg38UCSC Ensembl
Outerchr10:13653746..13654045hg38UCSC Ensembl
Innerchr10:13695895..13695896hg19UCSC Ensembl
Outerchr10:13695746..13696045hg19UCSC Ensembl
Innerchr10:13735902..13735901hg18UCSC Ensembl
Outerchr10:13735752..13736051hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302943
Supporting Variants
SamplesNA19093
Known GenesFRMD4A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7736118
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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