A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15862314



Internal ID2076943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:48785486..48789389hg38UCSC Ensembl
Innerchr18:48785494..48789381hg38UCSC Ensembl
Outerchr18:48785478..48789397hg38UCSC Ensembl
chr18:46311857..46315760hg19UCSC Ensembl
Innerchr18:46311865..46315752hg19UCSC Ensembl
Outerchr18:46311849..46315768hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg383904
hg193904
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642481
Supporting Variants
SamplesHG01886
Known GenesCTIF
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15862314
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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