A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6780451



Internal ID10185887
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 StatusS
Merged Variantsesv2740709, esv2740708
Supporting Variants
SamplesSSM067
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)essv6780451
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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