A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6902435



Internal ID10011380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:36054637..36055111hg38UCSC Ensembl
Outerchr21:37426935..37427409hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723388
Supporting Variants
SamplesSSM012
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)essv6902435
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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