A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6972441



Internal ID10078960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:69561572..69561976hg38UCSC Ensembl
Outerchr1:70027255..70027659hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38405
hg19405
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749552
Supporting Variants
SamplesSSM029
Known Genes
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)essv6972441
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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