A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723654



Internal ID9957954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44410193..44410957hg38UCSC Ensembl
Outerchr21:45830076..45830840hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38765
hg19765
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6666839, essv6666838, essv6937588, essv6937587, essv6954615, essv6766493, essv6773362, essv6682771
SamplesSSM065, SSM021, SSM029, SSM033, SSM025, SSM063
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)esv2723654
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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