A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6710512



Internal ID9773451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:41806051..41806263hg38UCSC Ensembl
Outerchr21:43226211..43226423hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723502, esv2723501, esv2723503, esv2723504
Supporting Variants
SamplesSSM041
Known GenesPRDM15
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)essv6710512
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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