A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15933317



Internal ID4721820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:72330480..72385275hg38UCSC Ensembl
chr18:69997715..70052510hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg3854796
hg1954796
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643056
Supporting Variants
SamplesNA06984
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15933317
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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