A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723489



Internal ID10307125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:41475506..41475727hg38UCSC Ensembl
Outerchr21:42847433..42847654hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38222
hg19222
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6686090, essv6895772, essv6813105
SamplesSSM076, SSM034, SSM098
Known GenesTMPRSS2
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)esv2723489
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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