A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6818786



Internal ID9871827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:32683433..32684478hg38UCSC Ensembl
OuterchrX:32701550..32702595hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg381046
hg191046
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740074
Supporting Variants
SamplesSSM078
Known GenesDMD
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6818786
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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