A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6868343



Internal ID10264990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:56734894..56763390hg38UCSC Ensembl
OuterchrY:58827481..58855977hg19UCSC Ensembl
CytobandYq12
Allele length
AssemblyAllele length
hg3828497
hg1928497
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740708
Supporting Variants
SamplesSSM089
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)essv6868343
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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