A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697599



Internal ID14716488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49540805..49543103hg38UCSC Ensembl
InnerchrX:49541805..49542103hg38UCSC Ensembl
OuterchrX:49539805..49544103hg38UCSC Ensembl
chrX:49305408..49307706hg19UCSC Ensembl
InnerchrX:49306408..49306706hg19UCSC Ensembl
OuterchrX:49304408..49308706hg19UCSC Ensembl
chrX:49192352..49194650hg18UCSC Ensembl
InnerchrX:49193352..49193650hg18UCSC Ensembl
OuterchrX:49191352..49195650hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg382299
hg192299
hg182299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3363500
Supporting Variants
SamplesNA19239
Known GenesGAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12G, GAGE12H, GAGE2A, GAGE8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697599
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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