A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15934076



Internal ID5935892
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643118
Supporting Variants
SamplesHG02394
Known GenesCNDP1, CNDP2, FAM69C, LINC00909
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15934076
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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