A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740109



Internal ID10323745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:40645708..40646215hg38UCSC Ensembl
OuterchrX:40504960..40505467hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38508
hg19508
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6762928, essv6705515, essv6964548, essv6849921, essv6786949, essv6957855, essv6731357, essv6904202, essv6682288, essv6687676, essv6969934, essv6757719, essv6737332, essv6944019, essv6975691, essv6799599, essv6791049, essv6830647, essv6732443, essv6782738, essv6892299, essv6841732, essv6684429, essv6834239, essv6897115, essv6723752, essv6818793, essv6881790, essv6708856, essv6743491, essv6680880
SamplesSSM059, SSM027, SSM045, SSM013, SSM009, SSM050, SSM041, SSM023, SSM028, SSM084, SSM047, SSM069, SSM029, SSM062, SSM026, SSM035, SSM094, SSM086, SSM033, SSM068, SSM081, SSM040, SSM082, SSM007, SSM078, SSM053, SSM005, SSM070, SSM034, SSM099, SSM012
Known GenesCXorf38
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)esv2740109
Frequency
Sample Size96
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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