A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3445940



Internal ID14946204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:70343311..70343829hg38UCSC Ensembl
InnerchrX:70343525..70343613hg38UCSC Ensembl
OuterchrX:70343095..70344043hg38UCSC Ensembl
chrX:69563161..69563679hg19UCSC Ensembl
InnerchrX:69563375..69563463hg19UCSC Ensembl
OuterchrX:69562945..69563893hg19UCSC Ensembl
chrX:69479886..69480404hg18UCSC Ensembl
InnerchrX:69480100..69480188hg18UCSC Ensembl
OuterchrX:69479670..69480618hg18UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38519
hg19519
hg18519
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8671628, essv8671627
SamplesNA19239, NA19238
Known GenesKIF4A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3445940
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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