A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660589



Internal ID9580008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3568920..3571761hg38UCSC Ensembl
chr18:3568918..3571759hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg382842
hg192842
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6576855, essv6261165, essv5996055, essv5787853, essv5404614, essv6055959, essv6567282, essv5612017, essv6296671, essv6195178, essv5948086, essv6156332, essv6209903, essv6078699, essv6201952, essv6267674, essv6439006, essv6407646, essv5699455, essv5455982
SamplesHG00613, HG00537, HG00536, HG00449, NA18603, HG00701, NA18596, NA18636, HG00628, NA18634, NA18539, HG01465, HG00443, NA18567, NA18577, NA18548, NA18610, NA18611, NA18532, HG00531
Known GenesDLGAP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660589
Frequency
Sample Size1151
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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