A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748711



Internal ID10329681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:51134614..51134992hg38UCSC Ensembl
Outerchr14:51601332..51601710hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38379
hg19379
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6735366, essv6809596, essv6765926, essv6741321, essv6685337, essv6774653, essv6905161, essv6738089, essv6916369, essv6761159, essv6949368, essv6691836, essv6820040, essv6867511, essv6910351, essv6732411
SamplesSSM036, SSM008, SSM024, SSM075, SSM013, SSM050, SSM002, SSM047, SSM061, SSM089, SSM078, SSM016, SSM034, SSM052, SSM049, SSM063
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)esv2748711
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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