A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6232115



Internal ID9209518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:80166195..80168831hg38UCSC Ensembl
chr18:77924078..77926714hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg382637
hg192637
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661105
Supporting Variants
SamplesNA19712
Known GenesPARD6G, PARD6G-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6232115
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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