A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6947029



Internal ID9989439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:11746857..11748204hg38UCSC Ensembl
OuterchrY:13867563..13868910hg19UCSC Ensembl
CytobandYq11.21
Allele length
AssemblyAllele length
hg381348
hg191348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740670
Supporting Variants
SamplesSSM003
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)essv6947029
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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