A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7746518



Internal ID14360728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:126426568..126426569hg38UCSC Ensembl
InnerchrX:126426510..126426627hg38UCSC Ensembl
OuterchrX:126426509..126426628hg38UCSC Ensembl
chrX:125560551..125560552hg19UCSC Ensembl
InnerchrX:125560493..125560610hg19UCSC Ensembl
OuterchrX:125560492..125560611hg19UCSC Ensembl
chrX:125388232..125388233hg18UCSC Ensembl
InnerchrX:125388291..125388174hg18UCSC Ensembl
OuterchrX:125388173..125388292hg18UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg3875
hg1975
hg1875
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305889
Supporting Variants
SamplesNA18858
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7746518
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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