A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15898041



Internal ID2869010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:60056957..60066458hg38UCSC Ensembl
Innerchr18:60056957..60066458hg38UCSC Ensembl
Outerchr18:60056707..60066597hg38UCSC Ensembl
chr18:57724189..57733690hg19UCSC Ensembl
Innerchr18:57724189..57733690hg19UCSC Ensembl
Outerchr18:57723939..57733829hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg389502
hg199502
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642685
Supporting Variants
SamplesHG02545
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15898041
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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