A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726754



Internal ID10310390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1095096..1095656hg38UCSC Ensembl
Outerchr4:1088884..1089444hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38561
hg19561
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv801e201
Supporting Variantsessv6848167, essv6914568, essv6892944
SamplesSSM086, SSM016, SSM098
Known GenesRNF212
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)esv2726754
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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