A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3348711



Internal ID14848976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:47153427..47153448hg38UCSC Ensembl
InnerchrX:47153429..47153446hg38UCSC Ensembl
OuterchrX:47153425..47153450hg38UCSC Ensembl
chrX:47012826..47012847hg19UCSC Ensembl
InnerchrX:47012828..47012845hg19UCSC Ensembl
OuterchrX:47012824..47012849hg19UCSC Ensembl
chrX:46897770..46897791hg18UCSC Ensembl
InnerchrX:46897772..46897789hg18UCSC Ensembl
OuterchrX:46897768..46897793hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866275
SamplesNA12005
Known GenesRBM10
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3348711
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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