A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6846911



Internal ID9899016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42715419..42719657hg38UCSC Ensembl
Outerchr21:44135529..44139767hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg384239
hg194239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723569
Supporting Variants
SamplesSSM085
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)essv6846911
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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