A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3389071



Internal ID15236038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196316684..196317582hg38UCSC Ensembl
Innerchr3:196316683..196317583hg38UCSC Ensembl
Outerchr3:196315684..196318582hg38UCSC Ensembl
chr3:196043555..196044453hg19UCSC Ensembl
Innerchr3:196043554..196044454hg19UCSC Ensembl
Outerchr3:196042555..196045453hg19UCSC Ensembl
chr3:197527952..197528850hg18UCSC Ensembl
Innerchr3:197528851..197527951hg18UCSC Ensembl
Outerchr3:197526952..197529850hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693999
SamplesNA19238
Known GenesTCTEX1D2, TM4SF19-TCTEX1D2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3389071
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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