A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3434580



Internal ID15281534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1415759..1418657hg38UCSC Ensembl
InnerchrX:1416759..1417657hg38UCSC Ensembl
OuterchrX:1414759..1419657hg38UCSC Ensembl
chrX:1534652..1537550hg19UCSC Ensembl
InnerchrX:1535652..1536550hg19UCSC Ensembl
OuterchrX:1533652..1538550hg19UCSC Ensembl
chrX:1494652..1497550hg18UCSC Ensembl
InnerchrX:1495652..1496550hg18UCSC Ensembl
OuterchrX:1493652..1498550hg18UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg382899
hg192899
hg182899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4562e59
Supporting Variantsessv8697505
SamplesNA19239
Known GenesASMTL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3434580
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer