A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308775



Internal ID14809038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:155282327..155282328hg38UCSC Ensembl
InnerchrX:155282299..155282356hg38UCSC Ensembl
OuterchrX:155282298..155282357hg38UCSC Ensembl
chrX:154511616..154511617hg19UCSC Ensembl
InnerchrX:154511588..154511645hg19UCSC Ensembl
OuterchrX:154511587..154511646hg19UCSC Ensembl
chrX:154164810..154164811hg18UCSC Ensembl
InnerchrX:154164839..154164782hg18UCSC Ensembl
OuterchrX:154164781..154164840hg18UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38175
hg19175
hg18175
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837628, essv7837033
SamplesNA19239, NA19240
Known GenesCLIC2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308775
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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