A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6780809



Internal ID10002909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:26661320..26666809hg38UCSC Ensembl
OuterchrY:28807467..28812956hg19UCSC Ensembl
CytobandYq12
Allele length
AssemblyAllele length
hg385490
hg195490
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740704, esv2740702
Supporting Variants
SamplesSSM008
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)essv6780809
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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