A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15934072



Internal ID4721706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:74369739..74453340hg38UCSC Ensembl
chr18:72036974..72120575hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg3883602
hg1983602
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643115
Supporting Variants
SamplesNA06984
Known GenesFAM69C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15934072
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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