A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697578



Internal ID14716277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49323786..49325600hg38UCSC Ensembl
InnerchrX:49324600..49324802hg38UCSC Ensembl
OuterchrX:49323289..49326603hg38UCSC Ensembl
chrX:49189808..49191606hg19UCSC Ensembl
InnerchrX:49190606..49190808hg19UCSC Ensembl
OuterchrX:49188808..49192606hg19UCSC Ensembl
chrX:49076752..49078550hg18UCSC Ensembl
InnerchrX:49077752..49077550hg18UCSC Ensembl
OuterchrX:49075752..49079550hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg381815
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3365328
Supporting Variants
SamplesNA19239
Known GenesGAGE13, GAGE2E, GAGE8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697578
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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