A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3328193



Internal ID15175178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:46317129..46317129hg38UCSC Ensembl
InnerchrX:46317128..46317130hg38UCSC Ensembl
OuterchrX:46317069..46317179hg38UCSC Ensembl
chrX:46176564..46176564hg19UCSC Ensembl
InnerchrX:46176563..46176565hg19UCSC Ensembl
OuterchrX:46176504..46176614hg19UCSC Ensembl
chrX:46061508..46061508hg18UCSC Ensembl
InnerchrX:46061509..46061507hg18UCSC Ensembl
OuterchrX:46061448..46061558hg18UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg3872
hg1972
hg1872
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8846785
SamplesNA19240
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3328193
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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