A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740652



Internal ID10324288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:11550196..11567097hg38UCSC Ensembl
OuterchrY:13705872..13722773hg19UCSC Ensembl
CytobandYq11.21
Allele length
AssemblyAllele length
hg3816902
hg1916902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6807096, essv6946974, essv6925279, essv6846656, essv6874369, essv6898317, essv6921248
SamplesSSM074, SSM018, SSM017, SSM003, SSM085, SSM091, SSM099
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)esv2740652
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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