A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697540



Internal ID15105965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:30788314..30799712hg38UCSC Ensembl
InnerchrX:30789314..30798712hg38UCSC Ensembl
OuterchrX:30787314..30800712hg38UCSC Ensembl
chrX:30806431..30817829hg19UCSC Ensembl
InnerchrX:30807431..30816829hg19UCSC Ensembl
OuterchrX:30805431..30818829hg19UCSC Ensembl
chrX:30716352..30727750hg18UCSC Ensembl
InnerchrX:30717352..30726750hg18UCSC Ensembl
OuterchrX:30715352..30728750hg18UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg3811399
hg1911399
hg1811399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3327969
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697540
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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