A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718360



Internal ID9952651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:22864007..22864607hg38UCSC Ensembl
Outerchr19:23046809..23047409hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6874287, essv6725497, essv6797114, essv6885767, essv6733165, essv6729321, essv6824650, essv6835864, essv6810133, essv6846720
SamplesSSM071, SSM075, SSM045, SSM046, SSM011, SSM079, SSM047, SSM085, SSM082, SSM095
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)esv2718360
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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