A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740672



Internal ID9975015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:12903720..12904114hg38UCSC Ensembl
OuterchrY:15015631..15016025hg19UCSC Ensembl
CytobandYq11.21
Allele length
AssemblyAllele length
hg38395
hg19395
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6874379, essv6674701
SamplesSSM031, SSM091
Known GenesDDX3Y
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)esv2740672
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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