A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726820



Internal ID10310456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1566454..1566937hg38UCSC Ensembl
Outerchr4:1568181..1568664hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38484
hg19484
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6947222, essv6733958, essv6872275, essv6675911, essv6670129, essv6955984, essv6962712, essv6810842, essv6973704, essv6906857, essv6722695, essv6804979
SamplesSSM027, SSM024, SSM045, SSM074, SSM029, SSM026, SSM032, SSM031, SSM014, SSM076, SSM091, SSM049
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)esv2726820
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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