A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662618



Internal ID9928723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:654174..655930hg38UCSC Ensembl
chr18:654174..655930hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg381757
hg191757
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6395063, essv6419148, essv6170666, essv6295845, essv6342577, essv5429084, essv5524655, essv5708575, essv6492657, essv5892945, essv6387775, essv5629599
SamplesNA19909, NA19443, NA19916, NA18498, NA18520, NA19449, NA19469, NA19436, NA19470, NA19324, NA19467, NA18487
Known GenesC18orf56
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662618
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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