A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728313



Internal ID10311949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:129704888..129705724hg38UCSC Ensembl
Outerchr4:130626043..130626879hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38837
hg19837
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6865091, essv6922929, essv6767203, essv6722859, essv6851976, essv6942879, essv6889815, essv6848457, essv6962998, essv6683619, essv6956291, essv6693740
SamplesSSM027, SSM045, SSM011, SSM064, SSM097, SSM023, SSM026, SSM089, SSM001, SSM086, SSM037, 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)esv2728313
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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