A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740683



Internal ID10324319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:20082105..20082322hg38UCSC Ensembl
OuterchrY:22243991..22244208hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg38218
hg19218
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6835803
SamplesSSM082
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)esv2740683
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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