A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718399



Internal ID9952690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:28720463..28720617hg38UCSC Ensembl
Outerchr19:29211370..29211524hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6868410, essv6961002, essv6858773, essv6863608
SamplesSSM087, SSM088, SSM026, SSM089
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)esv2718399
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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