A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15812602



Internal ID1961061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13205706..13207356hg38UCSC Ensembl
Innerchr18:13205706..13207356hg38UCSC Ensembl
Outerchr18:13205417..13207630hg38UCSC Ensembl
chr18:13205705..13207355hg19UCSC Ensembl
Innerchr18:13205705..13207355hg19UCSC Ensembl
Outerchr18:13205416..13207629hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg381651
hg191651
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641852
Supporting Variants
SamplesHG01812
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15812602
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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