A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3343198



Internal ID14843466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:18771553..18771553hg38UCSC Ensembl
Innerchr19:18771552..18771554hg38UCSC Ensembl
Outerchr19:18771503..18771603hg38UCSC Ensembl
chr19:18882363..18882363hg19UCSC Ensembl
Innerchr19:18882362..18882364hg19UCSC Ensembl
Outerchr19:18882313..18882413hg19UCSC Ensembl
chr19:18743363..18743363hg18UCSC Ensembl
Innerchr19:18743364..18743362hg18UCSC Ensembl
Outerchr19:18743313..18743413hg18UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg381034
hg191034
hg181034
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8653199, essv8653198, essv8653196
SamplesNA12892, NA12891, NA12878
Known GenesCRTC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3343198
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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