A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15856392



Internal ID2500090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:43649860..43651455hg38UCSC Ensembl
Innerchr18:43649894..43651421hg38UCSC Ensembl
Outerchr18:43649826..43651489hg38UCSC Ensembl
chr18:41229825..41231420hg19UCSC Ensembl
Innerchr18:41229859..41231386hg19UCSC Ensembl
Outerchr18:41229791..41231454hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg381596
hg191596
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642379
Supporting Variants
SamplesHG02220
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15856392
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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