A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741403



Internal ID15090852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:83508298..83508298hg38UCSC Ensembl
InnerchrX:83508297..83508299hg38UCSC Ensembl
OuterchrX:83508248..83508348hg38UCSC Ensembl
chrX:82763306..82763306hg19UCSC Ensembl
InnerchrX:82763305..82763307hg19UCSC Ensembl
OuterchrX:82763256..82763356hg19UCSC Ensembl
chrX:82649962..82649962hg18UCSC Ensembl
InnerchrX:82649963..82649961hg18UCSC Ensembl
OuterchrX:82649912..82650012hg18UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg383375
hg193375
hg183375
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3448812
Supporting Variants
SamplesNA19240
Known GenesPOU3F4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741403
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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