A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6954290



Internal ID9711973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:605398..605715hg38UCSC Ensembl
Outerchr19:605398..605715hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717750, esv2717753, esv2717752
Supporting Variants
SamplesSSM025
Known GenesHCN2
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)essv6954290
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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