A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728355



Internal ID10311991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:133216358..133216925hg38UCSC Ensembl
Outerchr4:134137513..134138080hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38568
hg19568
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6848470, essv6963010, essv6924496, essv6798424, essv6914742, essv6833412, essv6756643, essv6956304, essv6670457, essv6680028, essv6767210
SamplesSSM008, SSM027, SSM064, SSM026, SSM003, SSM031, SSM086, SSM033, SSM072, SSM082, SSM016
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)esv2728355
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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