A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5783229



Internal ID8737377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3997014..3997471hg38UCSC Ensembl
chr18:3997014..3997471hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38458
hg19458
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658035
Supporting Variants
SamplesHG00124
Known GenesDLGAP1, DLGAP1-AS4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5783229
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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