A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3434986



Internal ID15281940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1446759..1448957hg38UCSC Ensembl
InnerchrX:1447759..1447957hg38UCSC Ensembl
OuterchrX:1445759..1449957hg38UCSC Ensembl
chrX:1565652..1567850hg19UCSC Ensembl
InnerchrX:1566652..1566850hg19UCSC Ensembl
OuterchrX:1564652..1568850hg19UCSC Ensembl
chrX:1525652..1527850hg18UCSC Ensembl
InnerchrX:1526652..1526850hg18UCSC Ensembl
OuterchrX:1524652..1528850hg18UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4563e59
Supporting Variantsessv8697511
SamplesNA19239
Known GenesASMTL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3434986
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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