A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723653



Internal ID9957953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44410156..44410523hg38UCSC Ensembl
Outerchr21:45830039..45830406hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38368
hg19368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6699539, essv6666838, essv6937587, essv6668856, essv6946409
SamplesSSM038, SSM023, SSM021, SSM029, SSM030
Known GenesTRPM2
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)esv2723653
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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