A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740060



Internal ID9974402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:31528021..31528478hg38UCSC Ensembl
OuterchrX:31546138..31546595hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38458
hg19458
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6855953, essv6957847, essv6849913, essv6964542, essv6775031
SamplesSSM027, SSM086, SSM066, SSM087, SSM026
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)esv2740060
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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