A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726989



Internal ID10310625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:6170145..6171179hg38UCSC Ensembl
Outerchr4:6171872..6172906hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381035
hg191035
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6883030, essv6962745, essv6910768, essv6742674
SamplesSSM027, SSM015, SSM053, SSM012
Known GenesJAKMIP1
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)esv2726989
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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