A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697605



Internal ID14716509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49581405..49583203hg38UCSC Ensembl
InnerchrX:49582203..49582405hg38UCSC Ensembl
OuterchrX:49580405..49584203hg38UCSC Ensembl
chrX:49346008..49347806hg19UCSC Ensembl
InnerchrX:49346806..49347008hg19UCSC Ensembl
OuterchrX:49345008..49348806hg19UCSC Ensembl
chrX:49232952..49234750hg18UCSC Ensembl
InnerchrX:49233952..49233750hg18UCSC Ensembl
OuterchrX:49231952..49235750hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3451692
Supporting Variants
SamplesNA19239
Known GenesGAGE12C, GAGE12D, GAGE12E, GAGE12H
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697605
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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