A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697490



Internal ID15105604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:135945127..135946325hg38UCSC Ensembl
InnerchrX:135945325..135946127hg38UCSC Ensembl
OuterchrX:135944127..135947325hg38UCSC Ensembl
chrX:135027286..135028484hg19UCSC Ensembl
InnerchrX:135027484..135028286hg19UCSC Ensembl
OuterchrX:135026286..135029484hg19UCSC Ensembl
chrX:134854952..134856150hg18UCSC Ensembl
InnerchrX:134855952..134855150hg18UCSC Ensembl
OuterchrX:134853952..134857150hg18UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3414226
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697490
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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