A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642072



Internal ID7028842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:28993295..29049973hg38UCSC Ensembl
Innerchr18:28993445..29049823hg38UCSC Ensembl
Outerchr18:28993145..29050123hg38UCSC Ensembl
chr18:26573259..26629937hg19UCSC Ensembl
Innerchr18:26573409..26629787hg19UCSC Ensembl
Outerchr18:26573109..26630087hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3856679
hg1956679
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15830585
SamplesHG02678
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642072
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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