A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15846596



Internal ID2627369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:38997366..39005216hg38UCSC Ensembl
Innerchr18:38997395..39005188hg38UCSC Ensembl
Outerchr18:38997338..39005245hg38UCSC Ensembl
chr18:36577330..36585180hg19UCSC Ensembl
Innerchr18:36577359..36585152hg19UCSC Ensembl
Outerchr18:36577302..36585209hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg387851
hg197851
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642269
Supporting Variants
SamplesHG02323
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15846596
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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