A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10899494



Internal ID901310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2170850..2224916hg38UCSC Ensembl
chr3:2212534..2266600hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3854067
hg1954067
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595015
Supporting Variants
SamplesNA12058
Known GenesCNTN4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10899494
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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