A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642435



Internal ID6682516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46500203..46505343hg38UCSC Ensembl
Innerchr18:46500227..46505320hg38UCSC Ensembl
Outerchr18:46500180..46505367hg38UCSC Ensembl
chr18:44080166..44085306hg19UCSC Ensembl
Innerchr18:44080190..44085283hg19UCSC Ensembl
Outerchr18:44080143..44085330hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg385141
hg195141
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15857846, essv15857844, essv15857845
SamplesHG00766, HG02058, HG01804
Known GenesLOXHD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642435
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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