A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718574



Internal ID10302210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:41151236..41161632hg38UCSC Ensembl
Outerchr19:41657141..41667537hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3810397
hg1910397
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6885785
SamplesSSM095
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)esv2718574
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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