A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666312



Internal ID9932417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:4506520..4510742hg38UCSC Ensembl
Outerchr18:4506363..4510895hg38UCSC Ensembl
Innerchr18:4506520..4510742hg19UCSC Ensembl
Outerchr18:4506363..4510895hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg384533
hg194533
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv579e199
Supporting Variantsessv6257533, essv6332662, essv6024305, essv5689275, essv5451059, essv6096647, essv5606273, essv5875233, essv6384183, essv6394960
SamplesNA19701, NA18508, NA19332, NA19451, HG01171, NA18858, HG01107, NA19248, NA19116, NA19900
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666312
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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