A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3443777



Internal ID15290730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:63801314..63801333hg38UCSC Ensembl
InnerchrX:63801310..63801337hg38UCSC Ensembl
OuterchrX:63801291..63801356hg38UCSC Ensembl
chrX:63021194..63021213hg19UCSC Ensembl
InnerchrX:63021190..63021217hg19UCSC Ensembl
OuterchrX:63021171..63021236hg19UCSC Ensembl
chrX:62937919..62937938hg18UCSC Ensembl
InnerchrX:62937942..62937915hg18UCSC Ensembl
OuterchrX:62937896..62937961hg18UCSC Ensembl
CytobandXq11.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8679508
SamplesNA19240
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3443777
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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