A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6668675



Internal ID10083961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:20055079..20110523hg38UCSC Ensembl
OuterchrY:22216965..22272409hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg3855445
hg1955445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740679
Supporting Variants
SamplesSSM030
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)essv6668675
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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