A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8978246



Internal ID14411010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49647176..49647188hg38UCSC Ensembl
InnerchrX:49647174..49647188hg38UCSC Ensembl
OuterchrX:49647164..49647200hg38UCSC Ensembl
chrX:49411779..49411791hg19UCSC Ensembl
InnerchrX:49411777..49411791hg19UCSC Ensembl
OuterchrX:49411767..49411803hg19UCSC Ensembl
chrX:49298735..49298747hg18UCSC Ensembl
InnerchrX:49298747..49298733hg18UCSC Ensembl
OuterchrX:49298723..49298759hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3339371
Supporting Variants
SamplesNA18907
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8978246
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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