A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15820673



Internal ID3290492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:25498838..25500993hg38UCSC Ensembl
Innerchr18:25498847..25500985hg38UCSC Ensembl
Outerchr18:25498830..25501002hg38UCSC Ensembl
chr18:23078802..23080957hg19UCSC Ensembl
Innerchr18:23078811..23080949hg19UCSC Ensembl
Outerchr18:23078794..23080966hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg382156
hg192156
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641999
Supporting Variants
SamplesHG02923
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15820673
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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