A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740690



Internal ID10324326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:20132549..20136357hg38UCSC Ensembl
OuterchrY:22294435..22298243hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg383809
hg193809
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6763965, essv6780743, essv6756267, essv6668679, essv6738557
SamplesSSM008, SSM050, SSM058, SSM062, 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)esv2740690
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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