A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723134



Internal ID10306770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10748843..10749437hg38UCSC Ensembl
Outerchr21:10763020..10763614hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg38595
hg19595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6895746, essv6941644, essv6721870, essv6898515
SamplesSSM044, SSM022, SSM099, SSM098
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)esv2723134
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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