A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15842464



Internal ID5844280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:36871361..36909772hg38UCSC Ensembl
Innerchr18:36871433..36909701hg38UCSC Ensembl
Outerchr18:36871290..36909844hg38UCSC Ensembl
chr18:34451324..34489735hg19UCSC Ensembl
Innerchr18:34451396..34489664hg19UCSC Ensembl
Outerchr18:34451253..34489807hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3838412
hg1938412
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642239
Supporting Variants
SamplesHG00375
Known GenesKIAA1328
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15842464
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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