A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15934077



Internal ID5935893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:74454714..74614537hg38UCSC Ensembl
chr18:72121949..72281773hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38159824
hg19159825
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643118
Supporting Variants
SamplesNA20768
Known GenesCNDP1, CNDP2, FAM69C, LINC00909
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15934077
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer