A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671018



Internal ID9590437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79694318..79694602hg38UCSC Ensembl
chr18:77454318..77454602hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38285
hg19285
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5985033, essv5653184, essv6227319, essv5956426, essv6536356, essv6539535, essv6448901, essv6258005, essv6390441, essv6034518, essv6414086, essv6133120, essv5479057, essv6392703, essv6160833, essv5573316, essv5973875
SamplesNA18951, HG01173, NA20294, NA19319, HG01051, HG01188, HG00581, NA18505, NA19428, HG00421, NA18636, NA20127, NA18956, HG01070, NA18582, HG00608, HG00473
Known GenesCTDP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671018
Frequency
Sample Size1151
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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