A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15781902



Internal ID5670789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:4775301..4782717hg38UCSC Ensembl
Innerchr18:4775301..4782717hg38UCSC Ensembl
Outerchr18:4774801..4783217hg38UCSC Ensembl
chr18:4775300..4782716hg19UCSC Ensembl
Innerchr18:4775300..4782716hg19UCSC Ensembl
Outerchr18:4774800..4783216hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg387417
hg197417
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641633
Supporting Variants
SamplesNA19077
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15781902
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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