A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723780



Internal ID9958080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45506725..45506897hg38UCSC Ensembl
Outerchr21:46926639..46926811hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6967843, essv6883214, essv6836106
SamplesSSM027, SSM094, SSM082
Known GenesCOL18A1
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)esv2723780
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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