A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15934116



Internal ID5935932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:74519564..74544990hg38UCSC Ensembl
chr18:72186799..72212225hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg3825427
hg1925427
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643121
Supporting Variants
SamplesHG02394
Known GenesCNDP1, CNDP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15934116
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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