A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740978



Internal ID10295094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:26663827..26670333hg38UCSC Ensembl
OuterchrY:28809974..28816480hg19UCSC Ensembl
CytobandYq12
Allele length
AssemblyAllele length
hg386507
hg196507
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1337e201
Supporting Variantsessv6696627
SamplesSSM037
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)esv2740978
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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