A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15779200



Internal ID5781016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3275083..3275856hg38UCSC Ensembl
Innerchr18:3275104..3275835hg38UCSC Ensembl
Outerchr18:3275062..3275877hg38UCSC Ensembl
chr18:3275081..3275854hg19UCSC Ensembl
Innerchr18:3275102..3275833hg19UCSC Ensembl
Outerchr18:3275060..3275875hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38774
hg19774
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641590
Supporting Variants
SamplesHG02852
Known GenesMYL12B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15779200
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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