A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740680



Internal ID10324316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:20056405..20083934hg38UCSC Ensembl
OuterchrY:22218291..22245820hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg3827530
hg1927530
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6892050, essv6874380, essv6668676, essv6674703, essv6816263, essv6921256, essv6937230, essv6738556, essv6810094, essv6917054, essv6835803, essv6820794
SamplesSSM075, SSM097, SSM050, SSM021, SSM017, SSM031, SSM082, SSM078, SSM016, SSM077, SSM091, SSM030
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)esv2740680
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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