A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8978049



Internal ID14117189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:22346964..22346994hg38UCSC Ensembl
InnerchrX:22346969..22346987hg38UCSC Ensembl
OuterchrX:22346939..22347017hg38UCSC Ensembl
chrX:22365081..22365111hg19UCSC Ensembl
InnerchrX:22365086..22365104hg19UCSC Ensembl
OuterchrX:22365056..22365134hg19UCSC Ensembl
chrX:22275002..22275032hg18UCSC Ensembl
InnerchrX:22275025..22275007hg18UCSC Ensembl
OuterchrX:22274977..22275055hg18UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg38251
hg19251
hg18251
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3409122
Supporting Variants
SamplesNA18564
Known GenesLOC100873065
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8978049
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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