A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741379



Internal ID15090594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:107949588..107949669hg38UCSC Ensembl
InnerchrX:107949619..107949638hg38UCSC Ensembl
OuterchrX:107949538..107949719hg38UCSC Ensembl
chrX:107192818..107192899hg19UCSC Ensembl
InnerchrX:107192849..107192868hg19UCSC Ensembl
OuterchrX:107192768..107192949hg19UCSC Ensembl
chrX:107079474..107079555hg18UCSC Ensembl
InnerchrX:107079524..107079505hg18UCSC Ensembl
OuterchrX:107079424..107079605hg18UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg3882
hg1982
hg1882
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3448289
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741379
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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