A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740825



Internal ID10294941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:26661303..26670858hg38UCSC Ensembl
OuterchrY:28807450..28817005hg19UCSC Ensembl
CytobandYq12
Allele length
AssemblyAllele length
hg389556
hg199556
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1336e201
Supporting Variantsessv6678811
SamplesSSM032
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)esv2740825
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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