A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741385



Internal ID14743902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:18456033..18456033hg38UCSC Ensembl
InnerchrX:18456032..18456034hg38UCSC Ensembl
OuterchrX:18455983..18456083hg38UCSC Ensembl
chrX:18474153..18474153hg19UCSC Ensembl
InnerchrX:18474152..18474154hg19UCSC Ensembl
OuterchrX:18474103..18474203hg19UCSC Ensembl
chrX:18384074..18384074hg18UCSC Ensembl
InnerchrX:18384075..18384073hg18UCSC Ensembl
OuterchrX:18384024..18384124hg18UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg381183
hg191183
hg181183
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3359808
Supporting Variants
SamplesNA19240
Known GenesCDKL5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741385
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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