A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3430522



Internal ID15277478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:92270114..92270127hg38UCSC Ensembl
InnerchrX:92270116..92270125hg38UCSC Ensembl
OuterchrX:92270112..92270129hg38UCSC Ensembl
chrX:91525113..91525126hg19UCSC Ensembl
InnerchrX:91525115..91525124hg19UCSC Ensembl
OuterchrX:91525111..91525128hg19UCSC Ensembl
chrX:91411769..91411782hg18UCSC Ensembl
InnerchrX:91411771..91411780hg18UCSC Ensembl
OuterchrX:91411767..91411784hg18UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866286
SamplesNA12005
Known GenesPCDH11X
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3430522
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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