A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3344450



Internal ID15191434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:48929436..48929436hg38UCSC Ensembl
InnerchrX:48929435..48929437hg38UCSC Ensembl
OuterchrX:48929386..48929486hg38UCSC Ensembl
chrX:48786712..48786712hg19UCSC Ensembl
InnerchrX:48786711..48786713hg19UCSC Ensembl
OuterchrX:48786662..48786762hg19UCSC Ensembl
chrX:48671656..48671656hg18UCSC Ensembl
InnerchrX:48671657..48671655hg18UCSC Ensembl
OuterchrX:48671606..48671706hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg381850
hg191850
hg181850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741393
SamplesNA19240
Known GenesOTUD5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3344450
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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