A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643336



Internal ID6683416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:80166136..80168849hg38UCSC Ensembl
Innerchr18:80166136..80168849hg38UCSC Ensembl
Outerchr18:80165950..80169062hg38UCSC Ensembl
chr18:77924019..77926732hg19UCSC Ensembl
Innerchr18:77924019..77926732hg19UCSC Ensembl
Outerchr18:77923833..77926945hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg382714
hg192714
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15961892, essv15961889, essv15961888, essv15961887, essv15961893, essv15961884, essv15961885, essv15961891, essv15961881, essv15961882, essv15961886, essv15961883, essv15961890
SamplesNA19712, NA18871, HG03196, NA19019, HG03548, HG03268, HG03558, NA19324, HG02757, HG02325, HG03363, NA06984, HG03081
Known GenesPARD6G, PARD6G-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643336
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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