A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6876086



Internal ID9664414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:41806060..41806285hg38UCSC Ensembl
Outerchr21:43226220..43226445hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38226
hg19226
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723502, esv2723501, esv2723503, esv2723504
Supporting Variants
SamplesSSM011
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)essv6876086
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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