A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697541



Internal ID15029066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:30789014..30799012hg38UCSC Ensembl
InnerchrX:30790014..30798012hg38UCSC Ensembl
OuterchrX:30788014..30800012hg38UCSC Ensembl
chrX:30807131..30817129hg19UCSC Ensembl
InnerchrX:30808131..30816129hg19UCSC Ensembl
OuterchrX:30806131..30818129hg19UCSC Ensembl
chrX:30717052..30727050hg18UCSC Ensembl
InnerchrX:30718052..30726050hg18UCSC Ensembl
OuterchrX:30716052..30728050hg18UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg389999
hg199999
hg189999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3336867
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697541
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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