A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6941457



Internal ID9702815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:41576472..41709018hg38UCSC Ensembl
Outerchr19:42082824..42212937hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38132547
hg19130114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718577
Supporting Variants
SamplesSSM022
Known GenesCEACAM21, CEACAM4, CEACAM5, CEACAM7
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)essv6941457
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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