A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15799258



Internal ID4642697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9225125..9225462hg38UCSC Ensembl
Innerchr18:9225125..9225462hg38UCSC Ensembl
Outerchr18:9225125..9225462hg38UCSC Ensembl
chr18:9225123..9225460hg19UCSC Ensembl
Innerchr18:9225123..9225460hg19UCSC Ensembl
Outerchr18:9225123..9225460hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641738
Supporting Variants
SamplesHG04176
Known GenesANKRD12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15799258
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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