A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642123



Internal ID7028893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31380933..31424506hg38UCSC Ensembl
Innerchr18:31380933..31424506hg38UCSC Ensembl
Outerchr18:31380433..31425006hg38UCSC Ensembl
chr18:28960896..29004469hg19UCSC Ensembl
Innerchr18:28960896..29004469hg19UCSC Ensembl
Outerchr18:28960396..29004969hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3843574
hg1943574
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv611e214
Supporting Variantsessv15836666, essv15836665
SamplesHG02072, HG00864
Known GenesDSG4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642123
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer