A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15815645



Internal ID6548503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:14748804..14756704hg38UCSC Ensembl
Innerchr18:14748804..14756704hg38UCSC Ensembl
Outerchr18:14748304..14757204hg38UCSC Ensembl
chr18:14748803..14756703hg19UCSC Ensembl
Innerchr18:14748803..14756703hg19UCSC Ensembl
Outerchr18:14748303..14757203hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg387901
hg197901
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641907
Supporting Variants
SamplesNA20752
Known GenesANKRD30B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15815645
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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