A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3425557



Internal ID15272514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:53899346..53899365hg38UCSC Ensembl
Innerchr18:53899342..53899369hg38UCSC Ensembl
Outerchr18:53899323..53899388hg38UCSC Ensembl
chr18:51425716..51425735hg19UCSC Ensembl
Innerchr18:51425712..51425739hg19UCSC Ensembl
Outerchr18:51425693..51425758hg19UCSC Ensembl
chr18:49679714..49679733hg18UCSC Ensembl
Innerchr18:49679737..49679710hg18UCSC Ensembl
Outerchr18:49679691..49679756hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8678278
SamplesNA19240
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3425557
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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