A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8973842



Internal ID13456406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:59482873..59482887hg38UCSC Ensembl
Innerchr18:59482864..59482894hg38UCSC Ensembl
Outerchr18:59482850..59482908hg38UCSC Ensembl
chr18:57150105..57150119hg19UCSC Ensembl
Innerchr18:57150096..57150126hg19UCSC Ensembl
Outerchr18:57150082..57150140hg19UCSC Ensembl
chr18:55301085..55301099hg18UCSC Ensembl
Innerchr18:55301106..55301076hg18UCSC Ensembl
Outerchr18:55301062..55301120hg18UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3391683
Supporting Variants
SamplesNA12414
Known GenesCCBE1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8973842
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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