A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15880929



Internal ID4019580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:54331706..54335949hg38UCSC Ensembl
Innerchr18:54331721..54335935hg38UCSC Ensembl
Outerchr18:54331692..54335964hg38UCSC Ensembl
chr18:51858076..51862319hg19UCSC Ensembl
Innerchr18:51858091..51862305hg19UCSC Ensembl
Outerchr18:51858062..51862334hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg384244
hg194244
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642579
Supporting Variants
SamplesHG03673
Known GenesSTARD6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15880929
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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