A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15903083



Internal ID4030243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:62085308..62120622hg38UCSC Ensembl
Innerchr18:62085341..62120590hg38UCSC Ensembl
Outerchr18:62085276..62120655hg38UCSC Ensembl
chr18:59752541..59787855hg19UCSC Ensembl
Innerchr18:59752574..59787823hg19UCSC Ensembl
Outerchr18:59752509..59787888hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg3835315
hg1935315
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642743
Supporting Variants
SamplesHG03684
Known GenesPIGN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15903083
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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