A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744319



Internal ID9978603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:15468474..15488142hg38UCSC Ensembl
Outerchr1:15794969..15814637hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3819669
hg1919669
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6910041, essv6707267, essv6880418, essv6748342, essv6807374, essv6742138
SamplesSSM053, SSM094, SSM041, SSM075, SSM015, SSM008
Known GenesCELA2A, CELA2B
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)esv2744319
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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