A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642239



Internal ID6682320
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15842464
SamplesHG00375
Known GenesKIAA1328
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642239
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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