A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5623812



Internal ID9311344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31191365..31195961hg38UCSC Ensembl
chr18:28771328..28775924hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg384597
hg194597
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2678734
Supporting Variants
SamplesNA18501
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5623812
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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