A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643054



Internal ID7029823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:72323900..72381459hg38UCSC Ensembl
Innerchr18:72323920..72381440hg38UCSC Ensembl
Outerchr18:72323881..72381479hg38UCSC Ensembl
chr18:69991135..70048694hg19UCSC Ensembl
Innerchr18:69991155..70048675hg19UCSC Ensembl
Outerchr18:69991116..70048714hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg3857560
hg1957560
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv637e214
Supporting Variantsessv15933307, essv15933309, essv15933308, essv15933310, essv15933306
SamplesNA06984, HG03061, HG01498, HG01551, HG01137
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643054
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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