A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718117



Internal ID9952408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152305136..152306228hg38UCSC Ensembl
Outerchr1:152277612..152278704hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg381093
hg191093
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6946592, essv6832690, essv6807465, essv6722092, essv6777031
SamplesSSM024, SSM075, SSM045, SSM067, SSM082
Known GenesFLG
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)esv2718117
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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