A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718577



Internal ID9952869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:41576456..41709018hg38UCSC Ensembl
Outerchr19:42082808..42212937hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38132563
hg19130130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6666486, essv6941457, essv6696720, essv6909801, essv6814587, essv6909802, essv6769288, essv6946154
SamplesSSM022, SSM064, SSM009, SSM029, SSM037, SSM023, SSM014
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)esv2718577
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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