A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641992



Internal ID7028763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:24924558..24929120hg38UCSC Ensembl
Innerchr18:24924558..24929120hg38UCSC Ensembl
Outerchr18:24924058..24929620hg38UCSC Ensembl
chr18:22504522..22509084hg19UCSC Ensembl
Innerchr18:22504522..22509084hg19UCSC Ensembl
Outerchr18:22504022..22509584hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg384563
hg194563
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv605e214
Supporting Variantsessv15820558
SamplesNA20901
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641992
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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