A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15818630



Internal ID2081040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:21372645..21376763hg38UCSC Ensembl
Innerchr18:21373145..21376263hg38UCSC Ensembl
Outerchr18:21371645..21377763hg38UCSC Ensembl
chr18:18952606..18956724hg19UCSC Ensembl
Innerchr18:18953106..18956224hg19UCSC Ensembl
Outerchr18:18951606..18957724hg19UCSC Ensembl
Cytoband18q11.1
Allele length
AssemblyAllele length
hg384119
hg194119
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641936
Supporting Variants
SamplesHG01890
Known GenesGREB1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15818630
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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