A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7839051



Internal ID15008022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:21467671..21467672hg38UCSC Ensembl
InnerchrX:21467632..21467711hg38UCSC Ensembl
OuterchrX:21467631..21467712hg38UCSC Ensembl
chrX:21485789..21485790hg19UCSC Ensembl
InnerchrX:21485750..21485829hg19UCSC Ensembl
OuterchrX:21485749..21485830hg19UCSC Ensembl
chrX:21395710..21395711hg18UCSC Ensembl
InnerchrX:21395750..21395671hg18UCSC Ensembl
OuterchrX:21395670..21395751hg18UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg38135
hg19135
hg18135
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3309065
Supporting Variants
SamplesNA19238
Known GenesCNKSR2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7839051
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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