A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723398



Internal ID9957698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:37125600..37128822hg38UCSC Ensembl
Outerchr21:38497900..38501122hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg383223
hg193223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6744884, essv6764125, essv6738750, essv6783843
SamplesSSM008, SSM050, SSM062, SSM053
Known GenesTTC3
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)esv2723398
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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