A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6967400



Internal ID9725276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:2432871..2432945hg38UCSC Ensembl
Outerchr19:2432869..2432943hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717893, esv2717892
Supporting Variants
SamplesSSM027
Known GenesLMNB2
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)essv6967400
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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