A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3380422



Internal ID14880695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:37244157..37244174hg38UCSC Ensembl
Innerchr18:37244158..37244173hg38UCSC Ensembl
Outerchr18:37244141..37244190hg38UCSC Ensembl
chr18:34824120..34824137hg19UCSC Ensembl
Innerchr18:34824121..34824136hg19UCSC Ensembl
Outerchr18:34824104..34824153hg19UCSC Ensembl
chr18:33078118..33078135hg18UCSC Ensembl
Innerchr18:33078134..33078119hg18UCSC Ensembl
Outerchr18:33078102..33078151hg18UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3859
hg1959
hg1859
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866026
SamplesNA12005
Known GenesCELF4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3380422
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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