A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6895507



Internal ID10289437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:20100808..20106827hg38UCSC Ensembl
OuterchrY:22262694..22268713hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg386020
hg196020
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740679, esv2740681, esv2740688, esv2740685
Supporting Variants
SamplesSSM098
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)essv6895507
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