A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3364710



Internal ID14864971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49528605..49604103hg38UCSC Ensembl
InnerchrX:49529605..49603103hg38UCSC Ensembl
OuterchrX:49528395..49605103hg38UCSC Ensembl
chrX:49293208..49368706hg19UCSC Ensembl
InnerchrX:49294208..49367706hg19UCSC Ensembl
OuterchrX:49292998..49369706hg19UCSC Ensembl
chrX:49180152..49255650hg18UCSC Ensembl
InnerchrX:49181152..49254650hg18UCSC Ensembl
OuterchrX:49179152..49256650hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3875499
hg1975499
hg1875499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8697593
SamplesNA19240
Known GenesGAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE2A, GAGE2C, GAGE2E, GAGE6, GAGE8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3364710
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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