A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723568



Internal ID9957868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42714734..42714980hg38UCSC Ensembl
Outerchr21:44134844..44135090hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6810292, essv6692673, essv6885926, essv6750550, essv6871660, essv6797351, essv6729532, essv6937578, essv6707208, essv6967810, essv6725750, essv6863857, essv6901546, essv6804350, essv6839874, essv6950448, essv6877619, essv6679068, essv6933209, essv6689198, essv6703768, essv6801545, essv6666823, essv6675108, essv6972207, essv6961382, essv6824883, essv6821100, essv6761815, essv6946394, essv6686097, essv6859088
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM079, SSM087, SSM039, SSM073, SSM088, SSM023, SSM028, SSM092, SSM090, SSM021, SSM061, SSM029, SSM026, SSM035, SSM032, SSM031, SSM040, SSM072, SSM020, SSM078, SSM095, SSM034, SSM056
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)esv2723568
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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