A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15895648



Internal ID3362729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:59621437..59625469hg38UCSC Ensembl
Innerchr18:59621443..59625463hg38UCSC Ensembl
Outerchr18:59621431..59625475hg38UCSC Ensembl
chr18:57288669..57292701hg19UCSC Ensembl
Innerchr18:57288675..57292695hg19UCSC Ensembl
Outerchr18:57288663..57292707hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg384033
hg194033
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642667
Supporting Variants
SamplesHG03015
Known GenesCCBE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15895648
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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