A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3435745



Internal ID15282699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:63197939..63200537hg38UCSC Ensembl
Innerchr18:63198939..63199537hg38UCSC Ensembl
Outerchr18:63196939..63201537hg38UCSC Ensembl
chr18:60865172..60867770hg19UCSC Ensembl
Innerchr18:60866172..60866770hg19UCSC Ensembl
Outerchr18:60864172..60868770hg19UCSC Ensembl
chr18:59016152..59018750hg18UCSC Ensembl
Innerchr18:59017152..59017750hg18UCSC Ensembl
Outerchr18:59015152..59019750hg18UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg382599
hg192599
hg182599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1910e59
Supporting Variantsessv8691265
SamplesNA19240
Known GenesBCL2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3435745
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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