A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697580



Internal ID14716328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49332227..49335534hg38UCSC Ensembl
InnerchrX:49333230..49334530hg38UCSC Ensembl
OuterchrX:49331227..49336534hg38UCSC Ensembl
chrX:49198208..49201506hg19UCSC Ensembl
InnerchrX:49199208..49200506hg19UCSC Ensembl
OuterchrX:49197208..49202506hg19UCSC Ensembl
chrX:49085152..49088450hg18UCSC Ensembl
InnerchrX:49086152..49087450hg18UCSC Ensembl
OuterchrX:49084152..49089450hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg383308
hg193299
hg183299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3399100
Supporting Variants
SamplesNA19239
Known GenesGAGE2A, GAGE2C, GAGE2D, GAGE2E, GAGE8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697580
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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