A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718580



Internal ID10302216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:41761264..41763738hg38UCSC Ensembl
Outerchr19:42265172..42267646hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg382475
hg192475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6807162
SamplesSSM074
Known GenesCEACAM6
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)esv2718580
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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