A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739494



Internal ID3289990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:625767..626226hg38UCSC Ensembl
OuterchrX:586502..586961hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38460
hg19460
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6919337, essv6694680, essv6964447, essv6969881, essv6790990, essv6957756, essv6939481, essv6952368, essv6927226, essv6948277, essv6802904, essv6887373
SamplesSSM022, SSM027, SSM025, SSM024, SSM017, SSM028, SSM073, SSM037, SSM019, SSM096, SSM026, SSM070
Known GenesSHOX
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)esv2739494
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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