A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642482



Internal ID7029252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:48965877..48967106hg38UCSC Ensembl
Innerchr18:48965877..48967106hg38UCSC Ensembl
Outerchr18:48965477..48967513hg38UCSC Ensembl
chr18:46492247..46493476hg19UCSC Ensembl
Innerchr18:46492247..46493476hg19UCSC Ensembl
Outerchr18:46491847..46493883hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg381230
hg191230
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15862326, essv15862328, essv15862327, essv15862333, essv15862329, essv15862332, essv15862325, essv15862330, essv15862322, essv15862321, essv15862324, essv15862320, essv15862323, essv15862331
SamplesHG02072, NA18647, NA18979, NA18606, NA19076, HG00448, NA18638, HG00560, NA18747, HG02397, NA18643, HG02079, NA18984, NA19065
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642482
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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