A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6901344



Internal ID10293493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:26661318..26670332hg38UCSC Ensembl
OuterchrY:28807465..28816479hg19UCSC Ensembl
CytobandYq12
Allele length
AssemblyAllele length
hg389015
hg199015
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740704
Supporting Variants
SamplesSSM100
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)essv6901344
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