A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740667



Internal ID10324303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:11729638..11730861hg38UCSC Ensembl
OuterchrY:13850344..13851567hg19UCSC Ensembl
CytobandYq11.21
Allele length
AssemblyAllele length
hg381224
hg191224
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6835792, essv6917048, essv6874377, essv6713873, essv6780438, essv6763961, essv6696616, essv6729254, essv6832227, essv6801244, essv6820790, essv6880168, essv6816258, essv6885718, essv6863528, essv6967358, essv6843439, essv6744669, essv6807099, essv6846662, essv6747505
SamplesSSM027, SSM046, SSM093, SSM074, SSM042, SSM088, SSM084, SSM062, SSM067, SSM085, SSM081, SSM072, SSM082, SSM078, SSM016, SSM053, SSM037, SSM077, SSM091, SSM055, SSM095
Known Genes
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)esv2740667
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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