A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723144



Internal ID10306780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10747460..10747591hg38UCSC Ensembl
Outerchr21:10764866..10764997hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv698e201
Supporting Variantsessv6853049, essv6675046, essv6868616
SamplesSSM089, SSM031, SSM086
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)esv2723144
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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