A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642978



Internal ID6683058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:69875833..69889929hg38UCSC Ensembl
Innerchr18:69876333..69889429hg38UCSC Ensembl
Outerchr18:69874833..69890929hg38UCSC Ensembl
chr18:67543069..67557165hg19UCSC Ensembl
Innerchr18:67543569..67556665hg19UCSC Ensembl
Outerchr18:67542069..67558165hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg3814097
hg1914097
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv632e214
Supporting Variantsessv15930775, essv15930774, essv15930773
SamplesNA06984, HG03947, HG03061
Known GenesCD226
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642978
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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