A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643136



Internal ID7029905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:75167915..75176478hg38UCSC Ensembl
Innerchr18:75167915..75176478hg38UCSC Ensembl
Outerchr18:75167728..75176639hg38UCSC Ensembl
chr18:72879870..72888433hg19UCSC Ensembl
Innerchr18:72879870..72888433hg19UCSC Ensembl
Outerchr18:72879683..72888594hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg388564
hg198564
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15934227, essv15934224, essv15934225, essv15934223, essv15934226
SamplesHG00306, NA06984, HG00182, HG03061, NA12272
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643136
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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