A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15934123



Internal ID3299094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:74716363..74725717hg38UCSC Ensembl
Innerchr18:74716406..74725675hg38UCSC Ensembl
Outerchr18:74716321..74725760hg38UCSC Ensembl
chr18:72428319..72437673hg19UCSC Ensembl
Innerchr18:72428362..72437631hg19UCSC Ensembl
Outerchr18:72428277..72437716hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg389355
hg199355
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643126
Supporting Variants
SamplesHG02941
Known GenesZNF407
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15934123
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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