A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726949



Internal ID10310585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:3746547..3746746hg38UCSC Ensembl
Outerchr4:3748274..3748473hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6880967, essv6973723, essv6770261, essv6938411, essv6899192, essv6683442, essv6798240, essv6872282, essv6956009
SamplesSSM100, SSM065, SSM029, SSM026, SSM094, SSM072, SSM022, SSM091, SSM034
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)esv2726949
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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