A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3446455



Internal ID14946719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49533905..49536003hg38UCSC Ensembl
InnerchrX:49534905..49535003hg38UCSC Ensembl
OuterchrX:49532905..49537003hg38UCSC Ensembl
chrX:49298508..49300606hg19UCSC Ensembl
InnerchrX:49299508..49299606hg19UCSC Ensembl
OuterchrX:49297508..49301606hg19UCSC Ensembl
chrX:49185452..49187550hg18UCSC Ensembl
InnerchrX:49186452..49186550hg18UCSC Ensembl
OuterchrX:49184452..49188550hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8697596
SamplesNA19239
Known GenesGAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12G, GAGE12H, GAGE2A, GAGE2E, GAGE8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3446455
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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