A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15780306



Internal ID5782122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:4001491..4010169hg38UCSC Ensembl
Innerchr18:4001500..4010161hg38UCSC Ensembl
Outerchr18:4001483..4010178hg38UCSC Ensembl
chr18:4001491..4010169hg19UCSC Ensembl
Innerchr18:4001500..4010161hg19UCSC Ensembl
Outerchr18:4001483..4010178hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg388679
hg198679
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641612
Supporting Variants
SamplesHG01924
Known GenesDLGAP1, DLGAP1-AS4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15780306
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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