A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3374855



Internal ID14875118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49553205..49555103hg38UCSC Ensembl
InnerchrX:49554103..49554205hg38UCSC Ensembl
OuterchrX:49552205..49556103hg38UCSC Ensembl
chrX:49317808..49319706hg19UCSC Ensembl
InnerchrX:49318706..49318808hg19UCSC Ensembl
OuterchrX:49316808..49320706hg19UCSC Ensembl
chrX:49204752..49206650hg18UCSC Ensembl
InnerchrX:49205752..49205650hg18UCSC Ensembl
OuterchrX:49203752..49207650hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8697601
SamplesNA19239
Known GenesGAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12G, GAGE12H
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3374855
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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