A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676958



Internal ID9596377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:3635910..3637379hg38UCSC Ensembl
Outerchr18:3635753..3637532hg38UCSC Ensembl
Innerchr18:3635909..3637378hg19UCSC Ensembl
Outerchr18:3635752..3637531hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg381780
hg191780
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6158661, essv5573883, essv5439560, essv6004695, essv5492388, essv6082889, essv5667672, essv6362711, essv6427400, essv6406079, essv6393284, essv6183267, essv5846426, essv6487743, essv5449212, essv6549757, essv5790580, essv5866524, essv5908417, essv5712702, essv5601265, essv5955968, essv5516056, essv5852412, essv5407265
SamplesNA18621, HG01440, NA18534, HG00705, NA19072, NA19334, NA19010, NA19355, NA18950, NA19390, NA18634, HG00237, NA19213, HG01437, HG00560, NA19901, HG00513, NA18543, NA18619, HG00650, NA18614, HG00656, HG00473, HG00702, NA18553
Known GenesDLGAP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676958
Frequency
Sample Size1151
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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