A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717945



Internal ID9952236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3406180..3406436hg38UCSC Ensembl
Outerchr19:3406178..3406434hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6682501
SamplesSSM033
Known GenesNFIC
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)esv2717945
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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