A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740659



Internal ID10324295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:11680505..11681496hg38UCSC Ensembl
OuterchrY:13801211..13802202hg19UCSC Ensembl
CytobandYq11.21
Allele length
AssemblyAllele length
hg38992
hg19992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1332e201
Supporting Variantsessv6917033, essv6921252, essv6696600, essv6780621, essv6780427, essv6946930, essv6696601, essv6843444, essv6917034, essv6835795, essv6747503, essv6946918, essv6925275, essv6888719
SamplesSSM008, SSM084, SSM018, SSM096, SSM017, SSM003, SSM067, SSM082, SSM016, SSM037, SSM055
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)esv2740659
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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