A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302821



Internal ID14803083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:16865603..16865896hg38UCSC Ensembl
InnerchrX:16865703..16865796hg38UCSC Ensembl
OuterchrX:16865503..16865996hg38UCSC Ensembl
chrX:16883726..16884019hg19UCSC Ensembl
InnerchrX:16883826..16883919hg19UCSC Ensembl
OuterchrX:16883626..16884119hg19UCSC Ensembl
chrX:16793647..16793940hg18UCSC Ensembl
InnerchrX:16793747..16793840hg18UCSC Ensembl
OuterchrX:16793547..16794040hg18UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38294
hg19294
hg18294
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7736882
SamplesNA10851
Known GenesRBBP7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302821
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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