A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv681e201



Internal ID22760039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:8548868..8548936hg38UCSC Ensembl
chr21:9437701..9437769hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2722993, esv2722990
SamplesSSM027, SSM087, SSM088, SSM089
Known Genes
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)dgv681e201
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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