A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6933451



Internal ID10044808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:196743577..196828340hg38UCSC Ensembl
Outerchr1:196712707..196797470hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3884764
hg1984764
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721006
Supporting Variants
SamplesSSM021
Known GenesCFH, CFHR1, CFHR3
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)essv6933451
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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