A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15934062



Internal ID3256399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:74217485..74219846hg38UCSC Ensembl
Innerchr18:74217512..74219820hg38UCSC Ensembl
Outerchr18:74217459..74219873hg38UCSC Ensembl
chr18:71884720..71887081hg19UCSC Ensembl
Innerchr18:71884747..71887055hg19UCSC Ensembl
Outerchr18:71884694..71887108hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg382362
hg192362
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643110
Supporting Variants
SamplesHG02879
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15934062
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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