A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2742152



Internal ID10296268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:26661320..26670811hg38UCSC Ensembl
OuterchrY:28807467..28816958hg19UCSC Ensembl
CytobandYq12
Allele length
AssemblyAllele length
hg389492
hg199492
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1336e201
Supporting Variantsessv6828668
SamplesSSM080
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)esv2742152
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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