A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3326131



Internal ID15173112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:106439278..106439278hg38UCSC Ensembl
InnerchrX:106439277..106439279hg38UCSC Ensembl
OuterchrX:106439228..106439328hg38UCSC Ensembl
chrX:105682508..105682508hg19UCSC Ensembl
InnerchrX:105682507..105682509hg19UCSC Ensembl
OuterchrX:105682458..105682558hg19UCSC Ensembl
chrX:105569164..105569164hg18UCSC Ensembl
InnerchrX:105569165..105569163hg18UCSC Ensembl
OuterchrX:105569114..105569214hg18UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38522
hg19522
hg18522
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8701538
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3326131
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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