A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697603



Internal ID14682615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49576705..49577903hg38UCSC Ensembl
InnerchrX:49576903..49577705hg38UCSC Ensembl
OuterchrX:49575705..49578903hg38UCSC Ensembl
chrX:49341308..49342506hg19UCSC Ensembl
InnerchrX:49341506..49342308hg19UCSC Ensembl
OuterchrX:49340308..49343506hg19UCSC Ensembl
chrX:49228252..49229450hg18UCSC Ensembl
InnerchrX:49229252..49228450hg18UCSC Ensembl
OuterchrX:49227252..49230450hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3449504
Supporting Variants
SamplesNA19238
Known GenesGAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12I, GAGE6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697603
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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