A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15818635



Internal ID5820451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:21676506..21677838hg38UCSC Ensembl
Innerchr18:21676556..21677788hg38UCSC Ensembl
Outerchr18:21676456..21677888hg38UCSC Ensembl
chr18:19256467..19257799hg19UCSC Ensembl
Innerchr18:19256517..19257749hg19UCSC Ensembl
Outerchr18:19256417..19257849hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg381333
hg191333
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641940
Supporting Variants
SamplesHG03910
Known GenesABHD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15818635
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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