A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15835446



Internal ID5560781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:30825236..30832588hg38UCSC Ensembl
Innerchr18:30825275..30832550hg38UCSC Ensembl
Outerchr18:30825198..30832627hg38UCSC Ensembl
chr18:28405202..28412554hg19UCSC Ensembl
Innerchr18:28405241..28412516hg19UCSC Ensembl
Outerchr18:28405164..28412593hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg387353
hg197353
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642115
Supporting Variants
SamplesNA19010
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15835446
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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