A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6738561



Internal ID10148187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:26661089..26666545hg38UCSC Ensembl
OuterchrY:28807236..28812692hg19UCSC Ensembl
CytobandYq12
Allele length
AssemblyAllele length
hg385457
hg195457
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740704, esv2740702
Supporting Variants
SamplesSSM050
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)essv6738561
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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