A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641875



Internal ID7028646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:14188789..14194696hg38UCSC Ensembl
Innerchr18:14188812..14194674hg38UCSC Ensembl
Outerchr18:14188767..14194719hg38UCSC Ensembl
chr18:14188788..14194695hg19UCSC Ensembl
Innerchr18:14188811..14194673hg19UCSC Ensembl
Outerchr18:14188766..14194718hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg385908
hg195908
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15812844, essv15812845, essv15812846, essv15812843
SamplesHG00349, HG02442, HG04162, HG02410
Known GenesANKRD20A5P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641875
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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