A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3412667



Internal ID15259626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:140804302..140804957hg38UCSC Ensembl
InnerchrX:140804362..140804888hg38UCSC Ensembl
OuterchrX:140804212..140804998hg38UCSC Ensembl
chrX:139886467..139887122hg19UCSC Ensembl
InnerchrX:139886527..139887053hg19UCSC Ensembl
OuterchrX:139886377..139887163hg19UCSC Ensembl
chrX:139714133..139714788hg18UCSC Ensembl
InnerchrX:139714193..139714719hg18UCSC Ensembl
OuterchrX:139714043..139714829hg18UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg38656
hg19656
hg18656
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8701248
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3412667
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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