A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730229



Internal ID10313865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:58981225..58981764hg38UCSC Ensembl
Outerchr5:58277052..58277591hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38540
hg19540
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6700797, essv6670770, essv6943112, essv6726910, essv6930238, essv6798614, essv6723016, essv6680202, essv6974365, essv6956630, essv6911100, essv6886153, essv6758442, essv6693924, essv6676319, essv6739772, essv6934469
SamplesSSM008, SSM045, SSM046, SSM039, SSM023, SSM021, SSM029, SSM026, SSM032, SSM031, SSM033, SSM072, SSM020, SSM015, SSM037, SSM052, SSM012
Known GenesPDE4D
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)esv2730229
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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