A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15837745



Internal ID5839561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:32066991..32098591hg38UCSC Ensembl
Innerchr18:32067141..32098441hg38UCSC Ensembl
Outerchr18:32066841..32098741hg38UCSC Ensembl
chr18:29646954..29678554hg19UCSC Ensembl
Innerchr18:29647104..29678404hg19UCSC Ensembl
Outerchr18:29646804..29678704hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3831601
hg1931601
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642144
Supporting Variants
SamplesNA18983
Known GenesRNF125, RNF138
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15837745
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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