A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718895



Internal ID9953187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:161723064..161726071hg38UCSC Ensembl
Outerchr1:161692854..161695861hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg383008
hg193008
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6954942
SamplesSSM026
Known GenesFCRLB
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)esv2718895
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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