A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6821324



Internal ID10222673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:196825147..196949204hg38UCSC Ensembl
Outerchr1:196794277..196918334hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38124058
hg19124058
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721040
Supporting Variants
SamplesSSM079
Known GenesCFHR1, CFHR2, CFHR4
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)essv6821324
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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