A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740709



Internal ID10324345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:56728238..56742630hg38UCSC Ensembl
OuterchrY:58848241..58862633hg19UCSC Ensembl
CytobandYq12
Allele length
AssemblyAllele length
hg3814393
hg1914393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6921273, essv6780451
SamplesSSM017, SSM067
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)esv2740709
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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