A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15835316



Internal ID729026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:30370967..30373303hg38UCSC Ensembl
Innerchr18:30370967..30373303hg38UCSC Ensembl
Outerchr18:30370654..30373577hg38UCSC Ensembl
chr18:27950933..27953269hg19UCSC Ensembl
Innerchr18:27950933..27953269hg19UCSC Ensembl
Outerchr18:27950620..27953543hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg382337
hg192337
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642102
Supporting Variants
SamplesHG00342
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15835316
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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