A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723559



Internal ID9957859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42570136..42570283hg38UCSC Ensembl
Outerchr21:43990246..43990393hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6821098, essv6868655
SamplesSSM078, SSM089
Known GenesSLC37A1
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)esv2723559
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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