A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740919



Internal ID10295035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:196794403..196919391hg38UCSC Ensembl
Outerchr1:196763533..196888521hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38124989
hg19124989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv43e201
Supporting Variantsessv6689386
SamplesSSM036
Known GenesCFHR1, 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)esv2740919
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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