A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6950120



Internal ID10054199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:26661299..26670312hg38UCSC Ensembl
OuterchrY:28807446..28816459hg19UCSC Ensembl
CytobandYq12
Allele length
AssemblyAllele length
hg389014
hg199014
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740704, esv2740702
Supporting Variants
SamplesSSM024
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)essv6950120
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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