A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8677569



Internal ID15025843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:21467662..21467696hg38UCSC Ensembl
InnerchrX:21467675..21467680hg38UCSC Ensembl
OuterchrX:21467641..21467714hg38UCSC Ensembl
chrX:21485780..21485814hg19UCSC Ensembl
InnerchrX:21485793..21485798hg19UCSC Ensembl
OuterchrX:21485759..21485832hg19UCSC Ensembl
chrX:21395701..21395735hg18UCSC Ensembl
InnerchrX:21395719..21395714hg18UCSC Ensembl
OuterchrX:21395680..21395753hg18UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg38270
hg19270
hg18270
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3334033
Supporting Variants
SamplesNA19238
Known GenesCNKSR2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8677569
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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