A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659614



Internal ID9925719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:71497600..71782669hg38UCSC Ensembl
chr18:69164836..69449905hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38285070
hg19285070
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5671184
SamplesHG00329
Known GenesLOC100505776
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659614
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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