A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15811015



Internal ID5812831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12201780..12261160hg38UCSC Ensembl
Innerchr18:12201830..12261110hg38UCSC Ensembl
Outerchr18:12201730..12261210hg38UCSC Ensembl
chr18:12201779..12261159hg19UCSC Ensembl
Innerchr18:12201829..12261109hg19UCSC Ensembl
Outerchr18:12201729..12261209hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3859381
hg1959381
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641830
Supporting Variants
SamplesHG03854
Known GenesC18orf61, CIDEA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15811015
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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