A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723571



Internal ID9957871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42773595..42774004hg38UCSC Ensembl
Outerchr21:44193705..44194114hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38410
hg19410
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6843299, essv6874644
SamplesSSM010, SSM091
Known GenesPDE9A
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)esv2723571
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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