A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8978920



Internal ID13951407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:122435448..122435462hg38UCSC Ensembl
InnerchrX:122435441..122435466hg38UCSC Ensembl
OuterchrX:122435427..122435480hg38UCSC Ensembl
chrX:121569301..121569315hg19UCSC Ensembl
InnerchrX:121569294..121569319hg19UCSC Ensembl
OuterchrX:121569280..121569333hg19UCSC Ensembl
chrX:121396982..121396996hg18UCSC Ensembl
InnerchrX:121397000..121396975hg18UCSC Ensembl
OuterchrX:121396961..121397014hg18UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38287
hg19287
hg18287
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3373475
Supporting Variants
SamplesNA18537
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8978920
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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