A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14822484



Internal ID6160393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:84371049..84389715hg38UCSC Ensembl
chr13:84945184..84963850hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3818667
hg1918667
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632946
Supporting Variants
SamplesNA19701
Known GenesLINC00333
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14822484
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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