A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3364881



Internal ID15211858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1447059..1448857hg38UCSC Ensembl
InnerchrX:1447857..1448059hg38UCSC Ensembl
OuterchrX:1446059..1449857hg38UCSC Ensembl
chrX:1565952..1567750hg19UCSC Ensembl
InnerchrX:1566750..1566952hg19UCSC Ensembl
OuterchrX:1564952..1568750hg19UCSC Ensembl
chrX:1525952..1527750hg18UCSC Ensembl
InnerchrX:1526952..1526750hg18UCSC Ensembl
OuterchrX:1524952..1528750hg18UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4563e59
Supporting Variantsessv8697512
SamplesNA19240
Known GenesASMTL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3364881
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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