A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15934049



Internal ID1766201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:73808507..73938689hg38UCSC Ensembl
chr18:71475742..71605924hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38130183
hg19130183
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643104
Supporting Variants
SamplesHG01625
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15934049
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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