A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6689157



Internal ID10102069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9063009..9082356hg38UCSC Ensembl
Outerchr21:9901842..9921189hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3819348
hg1919348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723047, esv2723012
Supporting Variants
SamplesSSM035
Known GenesTEKT4P2
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)essv6689157
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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