A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717757



Internal ID10301393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:642133..642362hg38UCSC Ensembl
Outerchr19:642133..642362hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38230
hg19230
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6703475, essv6960902, essv6852718, essv6733109
SamplesSSM039, SSM047, SSM026, SSM086
Known GenesFGF22
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)esv2717757
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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