A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673616



Internal ID9593035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:3630129..3631678hg38UCSC Ensembl
Outerchr18:3630092..3631728hg38UCSC Ensembl
Innerchr18:3630128..3631677hg19UCSC Ensembl
Outerchr18:3630091..3631727hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg381637
hg191637
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6260669, essv6317670
SamplesNA18964, NA18537
Known GenesDLGAP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673616
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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