A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6812905



Internal ID10213220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:26667073..26670770hg38UCSC Ensembl
OuterchrY:28813220..28816917hg19UCSC Ensembl
CytobandYq12
Allele length
AssemblyAllele length
hg383698
hg193698
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740705
Supporting Variants
SamplesSSM076
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)essv6812905
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