A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15780302



Internal ID5782118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3856566..3859970hg38UCSC Ensembl
Innerchr18:3857066..3859470hg38UCSC Ensembl
Outerchr18:3855566..3860970hg38UCSC Ensembl
chr18:3856566..3859970hg19UCSC Ensembl
Innerchr18:3857066..3859470hg19UCSC Ensembl
Outerchr18:3855566..3860970hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg383405
hg193405
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641610
Supporting Variants
SamplesHG02973
Known GenesDLGAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15780302
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