A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642103



Internal ID7028873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:30408135..30471115hg38UCSC Ensembl
Innerchr18:30408635..30470615hg38UCSC Ensembl
Outerchr18:30407135..30472115hg38UCSC Ensembl
chr18:27988101..28051081hg19UCSC Ensembl
Innerchr18:27988601..28050581hg19UCSC Ensembl
Outerchr18:27987101..28052081hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3862981
hg1962981
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv610e214
Supporting Variantsessv15835317, essv15835320, essv15835319, essv15835318
SamplesHG00674, HG00634, HG00475, HG00476
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642103
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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