A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740642



Internal ID10324278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:7766709..7776099hg38UCSC Ensembl
OuterchrY:7634750..7644140hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg389391
hg199391
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6744662
SamplesSSM053
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)esv2740642
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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