A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15779507



Internal ID5781323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3560303..3562105hg38UCSC Ensembl
Innerchr18:3560303..3562105hg38UCSC Ensembl
Outerchr18:3560139..3562262hg38UCSC Ensembl
chr18:3560301..3562103hg19UCSC Ensembl
Innerchr18:3560301..3562103hg19UCSC Ensembl
Outerchr18:3560137..3562260hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg381803
hg191803
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641601
Supporting Variants
SamplesNA19456
Known GenesDLGAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15779507
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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