A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3415187



Internal ID15262146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:117666317..117666325hg38UCSC Ensembl
InnerchrX:117666319..117666323hg38UCSC Ensembl
OuterchrX:117666315..117666327hg38UCSC Ensembl
chrX:116800280..116800288hg19UCSC Ensembl
InnerchrX:116800282..116800286hg19UCSC Ensembl
OuterchrX:116800278..116800290hg19UCSC Ensembl
chrX:116684308..116684316hg18UCSC Ensembl
InnerchrX:116684310..116684314hg18UCSC Ensembl
OuterchrX:116684306..116684318hg18UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866296
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3415187
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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