A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6844461



Internal ID10243497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1391390..1392005hg38UCSC Ensembl
Outerchr4:1385178..1385793hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38616
hg19616
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726793
Supporting Variants
SamplesSSM085
Known GenesCRIPAK
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)essv6844461
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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