A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6967370



Internal ID10072003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:56734891..56763432hg38UCSC Ensembl
OuterchrY:58827439..58855980hg19UCSC Ensembl
CytobandYq12
Allele length
AssemblyAllele length
hg3828542
hg1928542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740708
Supporting Variants
SamplesSSM027
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)essv6967370
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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