A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740689



Internal ID10324325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:20101982..20136362hg38UCSC Ensembl
OuterchrY:22263868..22298248hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg3834381
hg1934381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6839585, essv6763965, essv6780743, essv6668678, essv6756267, essv6668679, essv6738557, essv6843452, essv6868334, essv6674706
SamplesSSM008, SSM083, SSM050, SSM058, SSM084, SSM062, SSM089, SSM031, 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)esv2740689
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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