A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3333705



Internal ID15180692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:50943724..50943724hg38UCSC Ensembl
InnerchrX:50943723..50943725hg38UCSC Ensembl
OuterchrX:50943674..50943774hg38UCSC Ensembl
chrX:50686724..50686724hg19UCSC Ensembl
InnerchrX:50686723..50686725hg19UCSC Ensembl
OuterchrX:50686674..50686774hg19UCSC Ensembl
chrX:50703464..50703464hg18UCSC Ensembl
InnerchrX:50703465..50703463hg18UCSC Ensembl
OuterchrX:50703414..50703514hg18UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg38312
hg19312
hg18312
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741395
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3333705
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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