A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15811121



Internal ID5812937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12364101..12364654hg38UCSC Ensembl
Innerchr18:12364107..12364649hg38UCSC Ensembl
Outerchr18:12364096..12364660hg38UCSC Ensembl
chr18:12364100..12364653hg19UCSC Ensembl
Innerchr18:12364106..12364648hg19UCSC Ensembl
Outerchr18:12364095..12364659hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38554
hg19554
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641836
Supporting Variants
SamplesHG04161
Known GenesAFG3L2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15811121
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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