A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723665



Internal ID9957965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44481498..44481962hg38UCSC Ensembl
Outerchr21:45901381..45901845hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38465
hg19465
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6836095, essv6892248
SamplesSSM097, SSM082
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)esv2723665
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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