A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7866285



Internal ID12971667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:84068569..84068594hg38UCSC Ensembl
InnerchrX:84068534..84068629hg38UCSC Ensembl
OuterchrX:84068509..84068654hg38UCSC Ensembl
chrX:83323577..83323602hg19UCSC Ensembl
InnerchrX:83323542..83323637hg19UCSC Ensembl
OuterchrX:83323517..83323662hg19UCSC Ensembl
chrX:83210233..83210258hg18UCSC Ensembl
InnerchrX:83210293..83210198hg18UCSC Ensembl
OuterchrX:83210173..83210318hg18UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3367403
Supporting Variants
SamplesNA12005
Known GenesRPS6KA6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7866285
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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