A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6733594



Internal ID10144504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:196766957..196776275hg38UCSC Ensembl
Outerchr1:196736087..196745405hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg389319
hg199319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721006, esv2721017
Supporting Variants
SamplesSSM049
Known GenesCFHR3
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)essv6733594
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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