A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7736882



Internal ID12764664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:16865704..16865796hg38UCSC Ensembl
OuterchrX:16865504..16865996hg38UCSC Ensembl
InnerchrX:16883827..16883919hg19UCSC Ensembl
OuterchrX:16883627..16884119hg19UCSC Ensembl
InnerchrX:16793748..16793840hg18UCSC Ensembl
OuterchrX:16793548..16794040hg18UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38493
hg19493
hg18493
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302821
Supporting Variants
SamplesNA10851
Known GenesRBBP7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7736882
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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