A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643133



Internal ID6683213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:75067524..75744229hg38UCSC Ensembl
chr18:72779480..73456184hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38676706
hg19676705
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15934215, essv15934214, essv15934217, essv15934218, essv15934216
SamplesNA19457, NA06984, NA19456, NA19434, NA19312
Known GenesSMIM21, TSHZ1, ZADH2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643133
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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