A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723485



Internal ID10307121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:41244535..41244657hg38UCSC Ensembl
Outerchr21:42616462..42616584hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6679061, essv6853104
SamplesSSM032, SSM086
Known GenesBACE2
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)esv2723485
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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