A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15772316



Internal ID1164364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:340957..547583hg38UCSC Ensembl
Innerchr18:341107..547433hg38UCSC Ensembl
Outerchr18:340807..547733hg38UCSC Ensembl
chr18:340957..547583hg19UCSC Ensembl
Innerchr18:341107..547433hg19UCSC Ensembl
Outerchr18:340807..547733hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38206627
hg19206627
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641485
Supporting Variants
SamplesHG01048
Known GenesCOLEC12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15772316
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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