A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697448



Internal ID15105451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:115843163..115890089hg38UCSC Ensembl
InnerchrX:115844163..115889089hg38UCSC Ensembl
OuterchrX:115842163..115891089hg38UCSC Ensembl
chrX:114959496..115006422hg19UCSC Ensembl
InnerchrX:114960496..115005422hg19UCSC Ensembl
OuterchrX:114958496..115007422hg19UCSC Ensembl
chrX:114865752..114920450hg18UCSC Ensembl
InnerchrX:114866752..114919450hg18UCSC Ensembl
OuterchrX:114864752..114921450hg18UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3846927
hg1946927
hg1854699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3364679
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697448
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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