A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667735



Internal ID9587154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:4258246..4258829hg38UCSC Ensembl
chr18:4258246..4258829hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38584
hg19584
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6218793
SamplesNA19443
Known GenesDLGAP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667735
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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