A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6710504



Internal ID10120695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:36054782..36054943hg38UCSC Ensembl
Outerchr21:37427080..37427241hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723388, esv2723389
Supporting Variants
SamplesSSM041
Known GenesSETD4
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)essv6710504
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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