A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720031



Internal ID10303667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:47900883..47901394hg38UCSC Ensembl
Outerchr2:48128022..48128533hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38512
hg19512
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6892597, essv6840282, essv6764369, essv6910376
SamplesSSM084, SSM015, SSM098, SSM063
Known GenesFBXO11
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)esv2720031
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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