A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3362170



Internal ID15209148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:138091569..138091578hg38UCSC Ensembl
InnerchrX:138091550..138091597hg38UCSC Ensembl
OuterchrX:138091541..138091606hg38UCSC Ensembl
chrX:137173728..137173737hg19UCSC Ensembl
InnerchrX:137173709..137173756hg19UCSC Ensembl
OuterchrX:137173700..137173765hg19UCSC Ensembl
chrX:137001394..137001403hg18UCSC Ensembl
InnerchrX:137001422..137001375hg18UCSC Ensembl
OuterchrX:137001366..137001431hg18UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866311
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3362170
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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