A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15934075



Internal ID5935891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:74454714..74614537hg38UCSC Ensembl
chr18:72121949..72281773hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38159824
hg19159825
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643117
Supporting Variants
SamplesNA06984
Known GenesCNDP1, CNDP2, FAM69C, LINC00909
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15934075
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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