A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15893659



Internal ID3125379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58229690..58232878hg38UCSC Ensembl
Innerchr18:58229700..58232868hg38UCSC Ensembl
Outerchr18:58229680..58232888hg38UCSC Ensembl
chr18:55896922..55900110hg19UCSC Ensembl
Innerchr18:55896932..55900100hg19UCSC Ensembl
Outerchr18:55896912..55900120hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg383189
hg193189
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642641
Supporting Variants
SamplesHG02756
Known GenesNEDD4L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15893659
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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