A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004963



Internal ID6717087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:32949968..32949968hg38UCSC Ensembl
chrX:32968085..32968085hg19UCSC Ensembl
chrX:32878006..32878006hg18UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg3864
hg1964
hg1864
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3571662
SamplesHuRef
Known GenesDMD
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004963
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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