A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3340077



Internal ID15187064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:21893417..21897715hg38UCSC Ensembl
InnerchrY:21894417..21896715hg38UCSC Ensembl
OuterchrY:21892417..21898715hg38UCSC Ensembl
chrY:24039564..24043862hg19UCSC Ensembl
InnerchrY:24040564..24042862hg19UCSC Ensembl
OuterchrY:24038564..24044862hg19UCSC Ensembl
chrY:22448952..22453250hg18UCSC Ensembl
InnerchrY:22449952..22452250hg18UCSC Ensembl
OuterchrY:22447952..22454250hg18UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg384299
hg194299
hg184299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8697671
SamplesNA19239
Known GenesRBMY1A1, RBMY1B, RBMY1D, RBMY1E
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3340077
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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