A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740674



Internal ID9975017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:12903881..12903958hg38UCSC Ensembl
OuterchrY:15015792..15015869hg19UCSC Ensembl
CytobandYq11.21
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6674701
SamplesSSM031
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)esv2740674
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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