A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723649



Internal ID9957949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44404805..44404972hg38UCSC Ensembl
Outerchr21:45824688..45824855hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6721916, essv6801557, essv6675122, essv6824893, essv6933223, essv6972218, essv6696940, essv6703775, essv6725758, essv6961394, essv6666837, essv6946408, essv6839883, essv6888947
SamplesSSM083, SSM045, SSM079, SSM039, SSM023, SSM028, SSM029, SSM096, SSM026, SSM031, SSM044, SSM072, SSM020, SSM037
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)esv2723649
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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